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Purpose: To report the optical coherence tomography (OCT) findings in a patient with bilateral macular coloboma with strabismus., Methods: A 21-year-old male presented with macular coloboma in both eyes.Fundus photography, fundus fluorescence angiography (FFA) and OCT were performed., Results: Color fundus photography showed a sharply-demarcated, round macular defect, approximately 4×4 disc diameters with bare sclera at the base and pigment clumping in both eyes. FFA showed hypofluorescence at the macula corresponding to the size of the lesion bilaterally. OCT revealed a crater-like depression at the macula, demonstrating atrophic neurosensory retina, and an absence of retinal pigment epithelium (RPE) and choroid in the lesion., Conclusion: OCT can be a beneficial tool to confirm the diagnosis of macular coloboma.

Introduction: The pathogenesis of the macular serous retinal detachment (SRD) associated with congenital optic disc pit remains controversial. The treatment is also discussed. Through this study, which includes the majority of the techniques available, we report our experiment in the treatment of this pathology., Patients and Methods: This was a retrospective single-centre study of 20 patients who presented with macular SRD associated with optic disc pit between 1983 and 2009. Various treatments were provided. At the beginning of the study, patients were treated only by juxtapapillary laser photocoagulation. After laser failure then as first-line treatment, laser photocoagulation was associated with intravitreal gas (C3F8) injection with postoperative facedown positioning for 2 weeks. During the past few years, all patients have been systematically treated with vitrectomy with or without internal limiting membrane (ILM) peeling, laser, and gas (C2F6) tamponade., Results: This series consisted of 20 patients: nine men and 11 women. The patients' mean age at presentation was 29 years (range, 9-60 years). The mean time between the onset of the decrease in visual acuity (VA) and treatment was 6.1 months. None of these patients had a posterior vitreous detachment at the time of diagnosis. Six patients were treated by laser photocoagulation alone, which was successful only in two cases. Eleven patients (with laser treatment failure in three) were treated by laser and intravitreal gas injection, with a 72% success rate. We performed vitrectomy with posterior hyaloid dissection, laser, and gas tamponade in eight cases (with laser-gas treatment failure in two) with 87% success rate and no recurrence. Five of these patients had ILM peeling during the vitrectomy. The mean follow-up period was 60 months (range, 2 months to 17 years)., Conclusion: This study shows that early treatment of macular SRD associated with optic disc pit by vitrectomy, ILM peeling, juxtapapillary photocoagulation, and gas tamponade is followed by good anatomical and functional results. This treatment is superior to the other less invasive procedures. Optical coherence tomography is an important exam for diagnosis and postoperative follow-up of patients., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Case Report: A twenty three year old woman was diagnosed of a morning glory papillary anomaly, then with normal visual acuity (VA). Nine years later, the VA decreased to 0.4, secondary to a serous macular detachment, confirmed by optical coherence tomography (OCT). After treatment with C2F6 gas injection, positioning, and peripapillary laser, the VA improved to 0.7 and the foveolar area reattached., Discussion: The morning glory Syndrome usually has an early diagnosis due to poor visual acuity. Thirty eight percent of the cases have retinal detachment. We show an unusual case of morning glory syndrome with a serous detachment, successfully treated with gas and laser., (Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.)

Ocular coloboma is sometimes accompanied by corectopia in humans and therefore ectopic pupil may indicate ocular coloboma in experimental animals. The RCS strain of rats has a low incidence of microphthalmia. We found that inferior ectopic pupil is associated exclusively with small-sized eyes in this strain. The objective of the current study was to evaluate whether inferior ectopic pupil is associated with iridal coloboma and other types of ocular coloboma in RCS rats. Both eyes of RCS rats were examined clinically, and those with inferior ectopic pupils underwent morphologic and morphometric examinations. In a prenatal study, coronal serial sections of eyeballs from fetuses at gestational day 16.5 were examined by using light microscopy. Ectopic pupils in RCS rats were found exclusively in an inferior position, where the iris was shortened. Fundic examination revealed severe chorioretinal coloboma in all cases of inferior ectopic pupil. The morphologic characteristics closely resembled those of chorioretinal coloboma in humans. Histopathologic examination of primordia showed incomplete closure of the optic fissure in 4 eyeballs of RCS fetuses. Neither F(1) rats nor N(2) (progeny of RCS × BN matings) displayed any ocular anomalies, including ectopic pupils. The RCS strain is a suitable model for human ocular coloboma, and inferior ectopic pupil appears to be a strong indicator of ocular coloboma.

Purpose: Lens coloboma is a rare congenital disorder of crystalline lens characterized by notching of the equator of the lens. Coloboma can occur in isolation or with other ocular malformations. The authors reported 5 cases of lens coloboma associated with some ocular malformations., Methods: Case reports. The clinical features, imaging findings and associated ocular malformations were reported., Results: One case was not associated with ocular anomalies. One patient was involved with iris and choroid coloboma; another subject suffered from total cataract; and the fourth patient was affected by lens dislocation. The remaining case included aniridia. The pathogenic mechanisms and relationship of the ocular malformations have been discussed., Conclusion: Lens coloboma can be associated with other ocular malformations, such as iris coloboma, choroid colobma, localized or total caratact.

The authors would like to present an unusual case of unilateral retinal detachment, phacodonesis, dense cataract and ocular coloboma in a 7-year-old Indian Muslim boy with Noonan syndrome. He underwent lensectomy, 23G pars planar vitrectomy, air fluid exchange, endolaser and silicone oil injection which successfully reattached the retina. His best corrected visual acuity was 6/24 6 months after the surgery and oil removal.

A 60-year-old woman was referred for a pigmented fundus lesion in her right eye that was suspected to be a possible choroidal melanoma. She complained of an intermittent floater in the right eye. Funduscopy revealed peripapillary atrophy and posterior staphyloma due to degenerative myopia, large inferior choroidal coloboma, and a cystic pigmented lesion measuring 7 mm in diameter and 3 mm in thickness located inferiorly when the patient was in the upright position. Following supine positioning, the lesion floated to the macular region. Ultrasonography confirmed that the lesion is cystic and freely mobile. Magnetic resonance imaging showed a well-defined, nodular preretinal intraocular lesion that was hypointense in both T1- and T2-weighted, non-contrast axial images. Observation of the benign vitreous cyst was advised. A free-floating pigmented vitreous cyst can be associated with high myopia and uveal coloboma. Its location in the posterior vitreous can lead to a misdiagnosis of a choroidal melanoma., (Copyright 2011, SLACK Incorporated.)

Choroidal neovascularization (CNV) is a rare complication associated with coloboma of the choroid. We describe three cases of coloboma choroid where there was loss of vision due to CNV development at the edge of the coloboma. One was managed by photodynamic therapy alone and two were managed by a combination of reduced fluence PDT and intravitreal bevacizumab. Significantly we noted that one treatment session was sufficient to achieve regression of the CNV and improvement in visual acuity.

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. No other cause for CNV was observed except for the chorioretinal coloboma. BCVA improved to 20/30 after laser photocoagulation. She revisited our clinic for deteriorating VA (20/400) in the same eye 3 years after treatment. Funduscopy and FA demonstrated recurrent CNV with subfoveal hemorrhage. Photodynamic therapy (PDT) was followed by three consecutive intravitreal bevacizumab injections (IVB) for the subfoveally-located CNV. However, the CNV persisted with the appearance of a fresh subretinal hemorrhage. Additional PDT was combined with IVB on the same day 6 months after the initial PDT. The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60. This case suggests that PDT combined with IVB can be an alternative treatment for the management of recurrent CNV after laser photocoagulation in eyes with chorioretinal coloboma.

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 µm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.

Clinicopathologic findings of a 44-year-old Caucasian male who presented with a congenital bilateral chorioretinal coloboma and later developed a large choroidal melanoma in his best seeing eye. The eye containing the malignant tumor was enucleated and the histopathologic findings confirmed the clinical diagnosis of choroidal melanoma, and in this case, an epithelioid cell type.

Colobomas are the major ophthalmic manifestation of CHARGE syndrome. Ophthalmological advice may be sought for an infant diagnosed with CHARGE syndrome presenting with coloboma, and electrophysiology can be particularly useful in assessing retinal and cortical function at an early age. Here we describe electrophysiology findings in a four-week-old infant born with bilateral coloboma, more extensive in the right eye, as part of CHARGE syndrome. The left eye showed robust ERGs indicating near-normal rod and cone function. The right eye ERG amplitudes were relatively reduced being around one half to two-thirds that of the left eye ERGs. Flash VEPs were present from both left and right eyes, but the right eye VEP was smaller and delayed relative to that of the left eye. By 5 years of age, right eye acuity was approximately 6/1000 and left eye acuity was 6/12 (Cardiff cards). In cases such as this, it is helpful to give parents a reasonable prediction of visual outcome as soon as possible, allowing instigation of appropriate management and permitting parents to begin to come to terms with the diagnosis. Electrophysiology can provide valuable information on visual function when behavioural testing is limited by the child's ability to co-operate, such as during the early weeks of life.

CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary spastic paraplegia, it was shown that interacting partners are involved in the underlying cause of the disease. These data encouraged us to search for CHD7 binding partners by a yeast two-hybrid library screen and CHD8 was identified as an interacting partner. The result was confirmed by a direct yeast two-hybrid analysis, co-immunoprecipitation studies and by a bimolecular fluorescence complementation assay. To investigate the function of CHD7 missense mutations in the CHD7-CHD8 interacting area on the binding capacity of both proteins, we included three known missense mutations (p.His2096Arg, p.Val2102Ile and p.Gly2108Arg) and one newly identified missense mutation (p.Trp2091Arg) in the CHD7 gene and performed both direct yeast two-hybrid and co-immunoprecipitation studies. In the direct yeast two-hybrid system, the CHD7-CHD8 interaction was disrupted by the missense mutations p.Trp2091Arg, p.His2096Arg and p.Gly2108Arg, whereas in the co-immunoprecipitation studies disruption of the CHD7-CHD8 interaction by the mutations could not be observed. The results lead to the hypothesis that CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins. Disruption of the direct CHD7-CHD8 interaction might change the conformation of a putative large CHD7-CHD8 complex and could be a disease mechanism in CHARGE syndrome.

Purpose: The purpose was to study the anatomical outcome of choroidal coloboma with retinal detachment managed by pars plana vitrectomy with silicone oil tamponade using optical coherence tomography., Methods: Six eyes of six patients with retinal detachment related to choroidal coloboma underwent pars plana vitrectomy with internal tamponade using silicone oil. Pre- and postoperative best-corrected visual acuities, intraocular pressure measurements, and intra- and postoperative complications were obtained. Color fundus photographs and optical coherence tomography images were taken at each follow-up., Results: Patients were observed up to a mean of 14 months (range, 8-18 months). Silicone oil was removed in all eyes. In all patients who had undergone vitrectomy, the retina was completely reattached before and after silicone oil extraction. Postoperatively, best-corrected visual acuities improved in 5 patients and remained unchanged in 1 patient ranging from 20/200 to 20/40 at the last follow-up. Although the retina was reattached in all patients, the optical coherence tomography showed a persistent intercalary membrane detachment in 4 patients (67%). In 1 patient (16%), subclinical retinal detachment that did not increase during the follow-up after silicone oil removal was detected just beyond the margin of the coloboma., Conclusion: After vitrectomy and silicone oil removal, optical coherence tomography showed persistent detachment of the intercalary membrane in most patients. These findings emphasize the importance of sealing the junction between the intercalary membrane and extracolobomatous retina with a laser barrier.

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome., ((c) 2010 Wiley-Liss, Inc.)

Purpose: To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico., Methods: Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonography of the eyes was performed on some family members. Genomic DNA was analyzed by homozygosity mapping using the Affymetrix 6.0 SNP array and linkage was confirmed with polymorphic microsatellite markers. Candidate genes were sequenced., Results: A diagnosis of autosomal recessive sclerocornea was established for 7 members of the Pakistani and 8 members of the Mexican pedigrees. In the Pakistani family we established linkage to a region on chromosome 1p that contained Forkhead Box E3 (FOXE3), a strong candidate gene since FOXE3 mutations had previously been associated with various anterior segment abnormalities. Sequencing FOXE3 identified the previously reported nonsense mutation, c.720C>A, p.C240X, in the Pakistani pedigree and a novel missense mutation which disrupts an evolutionarily conserved residue in the forkhead domain, c.292T>C, p.Y98H, in the Mexican pedigree. Individuals with heterozygous mutations had no ocular abnormalities. MRI or ultrasonography confirmed that the patients with sclerocornea were also aphakic, had microphthalmia and some had optic disc coloboma., Conclusions: This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients. Previous papers have emphasized aphakia and microphthalmia as the primary phenotype, but we find that the initial diagnosis - and perhaps the only one possible in a rural setting - is one of non-syndromic, bilateral, total sclerocornea. Dominantly inherited anterior segment defects have also been noted in association with heterozygous FOXE3 mutations. However the absence of any abnormalities in the FOXE3 heterozygotes described suggests that genetic background and environmental factors plays a role in the penetrance of the mutant allele.

Choroidal neovascular membranes are a rare cause of decreased vision in children with congenital choroidal and optic nerve colobomas. We report on the regression of coloboma-related choroidal neovascular membranes in 2 children treated with intravitreal bevacizumab. Visual acuity remained improved in both children 2 years after the last injection.

Purpose: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A)., Methods: Full ophthalmological evaluation and direct sequencing of TFAP2A., Results: A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified., Conclusions: This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.

The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.

Choroidal neovascularization can rarely complicate the course of a number of chorioretinal hereditary dystrophies leading to an even further impaired vision function. In recent years, several case reports and case series have shown that intravitreal injections of antivascular endothelial growth factor drugs can be effective in treating subfoveal choroidal neovascularization secondary to chorioretinal dystrophies either improving vision, or at least halting its progressive loss. Additional studies are warranted to confirm the initial positive response and to assess the best therapeutic regimen., (Copyright 2010 S. Karger AG, Basel.)

We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea with coloboma of the inferior pupil margin in the left iris. Fundus examination of the left eye revealed an inferior choroidal coloboma extending from the optic disc and macula. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. In the very rare condition of colobomatous macropthalmos with microcornea, retinal detachment may develop. Pars plana vitrectomy with additional silicone oil tamponade may be performed to treat this condition.

Optic nerve and retinochoroidal coloboma are caused by incomplete closure of the embryonic fissure during fetal development.(1) Affected patients carry a risk for retinal detachment and less so for choroidal neovascular membranes (CNVM) secondary to the altered anatomy. Because of the rarity of this condition and the even more unusual occurrence of such complications, there are only a few case reports on the treatment of coloboma-related CNVM. Herein we report the results of ranibizumab and laser photocoagulation for coloboma-related CNVM in a child.

Purpose: To review the clinical observations in the management of congenital eyelid coloboma., Methods: Fifty-one cases of congenital eyelid colobomas including the functional and cosmetic rehabilitation of patients who were treated over a period of 18 years with an average follow-up of 4.7 years were retrospectively reviewed., Results: Thirty-eight patients had an upper eyelid coloboma and 13 patients had a lower eyelid coloboma. Systemic associations included Goldenhar syndrome and Treacher-Collins-Franceschetti syndrome. Twenty-two patients with upper eyelid colobomas underwent surgery by direct apposition, eyelid sharing procedures, or a lateral rotation flap. Lower eyelid colobomas were repaired in 4 patients., Conclusion: Gratifying cosmetic and functional results could be achieved in all 26 patients who underwent surgery.

Unlabelled: CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for CHARGE syndrome, who had moderate or severe T-cell lymphopenia complicated by infections. The patients presented in Leicester, UK, between 2000 and 2007. All patients were negative for 22q11.2 deletions by FISH analysis, but mutations in the CHD7 gene were identified in three patients in whom the analysis was performed. Our cases indicate that patients with CHARGE syndrome may have a spectrum of T-cell immune deficiency, and that this association may be more common than has previously been appreciated. We recommend that all patients diagnosed with CHARGE syndrome should have lymphocyte subsets evaluated as part of their initial investigation., Conclusion: Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency.

Mammalian eye development requires vitamin A (retinol, ROL). The role of vitamin A at specific times during eye development was studied in rat fetuses made vitamin A deficient (VAD) after embryonic day (E) 10.5 (late VAD). The optic fissure does not close in late VAD embryos, and severe folding and collapse of the retina is observed at E18.5. Pitx2, a gene required for normal optic fissure closure, is dramatically downregulated in the periocular mesenchyme in late VAD embryos, and dissolution of the basal lamina does not occur at the optic fissure margin. The addition of ROL to late VAD embryos by E12.5 restores Pitx2 expression, supports dissolution of the basal lamina, and prevents coloboma, whereas supplementation at E13.5 does not. Surprisingly, ROL given as late as E13.5 completely prevents folding of the retina despite the presence of an open fetal fissure, showing that coloboma and retinal folding represent distinct VAD-dependent defects. Retinal folding due to VAD is preceded by an overall reduction in the percentage of cyclin D1 positive cells in the developing retina, (initially resulting in retinal thinning), as well as a dramatic reduction in the cell adhesion-related molecules, N-cadherin and beta-catenin. Reduction of retinal cell number combined with a loss of the normal cell-cell adhesion proteins may contribute to the collapse and folding of the retina that occurs in late VAD fetuses.

A 6-year-old boy presented with bilateral aniridia associated with lens coloboma and snowflake retinal degeneration. Ophthalmologic examination revealed bilateral corneal peripheral epithelial thickening and aniridia. Additionally, the patient had lenticular coloboma and snowflake retinal degeneration in both eyes. Intraocular pressure was 22 mm Hg bilaterally. The patient also had pendular nystagmus. Uncorrected visual acuity was counting fingers at 2 meters for both eyes, but improved to 0.2 and 0.05, respectively, with correction. Congenital aniridia has been reported with various ophthalmic pathologies, but this is the first case to display bilateral lenticular coloboma and snowflake retinal degeneration associated with aniridia.

Purpose: To describe the spectrum of clinical features and surgical outcomes in children with rhegmatogenous retinal detachments in a tertiary-care hospital in northern India., Methods: In this retrospective interventional case series, 230 eyes of 216 children 18 years of age or younger undergoing surgery for rhegmatogenous retinal detachment were included. Detailed history and complete ophthalmic and systemic examination was performed when essential. Risk factors for retinal detachment were noted. Surgical intervention consisted of scleral buckling alone or standard 3-port pars plana vitrectomy with silicone oil tamponade. Rate of anatomical attachment and status of postoperative visual acuity were noted., Results: Mean age was 11.12 +/- 3.56 years. Most patients (81.9%) were boys. Thirty-five (16.2%) patients had bilateral retinal detachment at presentation. Detachments tended to be complex, with 54.3% (125/230 eyes) having some form of proliferative vitreoretinopathy. Mean follow-up was 12.3 months. Complete retinal reattachment was achieved in 88.7% of eyes; however, visual recovery was modest., Conclusions: The most common conditions predisposing to rhegmatogenous retinal detachment were peripheral retinal degeneration and trauma. Rhegmatogenous retinal detachments secondary to iridofundal coloboma may be more common than previously reported. A combination of buckling and vitreoretinal techniques helped achieve retinal reattachment in most cases. The presence of anterior proliferative vitreoretinopathy is a poor prognostic factor in terms of both anatomic success as well as visual improvement.

The oro-ocular cleft no. 4 according to the Tessier classification is one of the rarest facial cleft, and to this day, few cases have been reported in the literature. We describe the case of a 9-month-old girl with a complete bilateral facial cleft. On the right cornea protruded a hard lesion, a corneal staphyloma. We describe the 3 primary surgical steps used to restore the possibility of satisfactory feeding, to promote language acquisition, and to protect vision in the nonaffected eye. The psychological and social aspects of severe facial deformities in developing countries are also tackled.

Proboscis lateralis is a rare spontaneous congenital anomaly that results from a failure of normal embryological nasal development. The ensuing deformity consists of imbrication of the nasal soft tissues into a tubelike proboscis and can be associated with ipsilateral heminasal aplasia, choanal atresia, and multiple other abnormalities. A case report of a patient with proboscis lateralis is presented, with a 27-year follow-up detailing the complexities of long-term surgical management. After 15 major surgical interventions, there is relatively normal facial symmetry, but abnormalities remain with the underlying craniofacial skeleton and nasopharyngeal airway. Proboscis lateralis is not an isolated soft tissue abnormality but is a craniofacial defect that requires a long-term multidisciplinary approach to the surgical timing and treatment with lifelong follow-up.

Children with CHARGE syndrome frequently experience long-term and complex feeding difficulties. This study investigated the prevalence and nature of feeding difficulties in a population of 39 children with CHARGE syndrome and explored the relationship between the clinical characteristics of the syndrome and feeding development. Information was collected via a survey (two questionnaires) completed by the parents. One questionnaire, the Pediatric Assessment Scale for Severe Feeding Problems, provided an objective measure of the current severity of feeding difficulties. Results of the survey indicated a high prevalence of long-term feeding issues in this population. Approximately 90% of the children had received tube feeding at some point in time. In contrast to previous literature, choanal atresia and heart malformations were not found to be significantly related to a higher severity of feeding difficulty or associated with long-term tube feeding. Cranial nerve dysfunction was found to be the primary clinical feature of CHARGE syndrome impacting feeding development, reflected in a high prevalence of weak sucking/chewing, swallowing difficulty, gastroesophageal reflux, and aspiration. The presence of these conditions in infancy suggests the likelihood of long-term feeding difficulty and warrants the ongoing attention of feeding specialists.

We describe a term baby girl with (CHARGE syndrome coloboma, heart anomaly, choanal atresia, retardation, and genital and ear anomalies association) who had persistent complete absence of the Moro reflex but preservation of other primary neonatal reflexes. A computed tomography scan revealed bilateral absence of the semicircular canals and hypoplastic vestibules. We suggest that isolated absence of the Moro reflex may reflect underlying abnormalities of the vestibular system and may, therefore, not necessarily be associated with a generalized disturbance of the central nervous system as is usually the case. This suggestion has implications for the diagnostic and prognostic relevance of an isolated absent Moro reflex.

Background: Ten years ago an unusual association of prenatal growth retardation, microcephaly, coloboma of the iris/eye anomalies, congenital heart defects, and urogenital anomalies was reported for the first time in three siblings. Autosomal recessive inheritance was presumed. This finding has been included in London Winter-Baraitser Dysmorphology Database as a separate entity, but still has not been classified as a distinct syndrome., Case: We report an infant with an association of prenatal growth retardation, microcephaly, facial dysmorphism, eye anomalies, congenital heart defects, and testis retention. Mild craniofacial dysmorphism consists of sloped forehead, bulbous nose tip, and micrognathia. Eye anomalies include coloboma of the iris, choroidea, and optic nerve as well as lens dislocation. The patient also presents with ventricular and atrial septal defects, hypoplastic mitral valve, persistent left superior vena cava, accessory spleen, and club foot., Conclusions: To the best of our knowledge, this is the second family and the fourth case with this pattern of birth defects reported worldwide so far. We presume that this combination of multiple congenital anomalies and growth retardation constitutes a newly recognized syndrome of likely autosomal recessive inheritance. So far no data suggest etiological impact of consanguinity, parental age, or environmental factors., ((c) 2008 Wiley-Liss, Inc.)

Congenital anomalies of the lens include a wide range from lens coloboma to primary aphakia and doubling of lens. There have been few case reports of double lens; the etiology suggested is metaplastic changes in the surface ectoderm that leads to formation of two lens vesicles and hence resulting in double lens. We report a case with bilobed lens, which raises the possibility of explaining the etiology of double lens.

Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congenital lens coloboma.

We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of the anterior segment showed microphthalmos with microcornea and coloboma of the iris. Fundus examination revealed an inferior choroidal coloboma extending to the optic disc. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. Although rare, retinal detachment may develop in patients with microphthalmos and choroidal coloboma. Pars plana vitrectomy with additional scleral encircling buckle may be performed to treat this condition.

Purpose: To report a case of a 5-year-old child with CHARGE association and bilateral conjunctival mucosa-associated lymphoid tissue (MALT) lymphoma treated with topical interferon-alpha., Methods: Case report., Results: A 5-year-old girl, diagnosed with nonclassical CHARGE association and hyper-immunoglobulin M (IgM) syndrome, was referred with a 2-month history of suspected purulent bilateral streptococcal conjunctivitis. Clinical symptoms did not resolve despite multiple antibiotic treatments, and her clinical course was attributed to underlying immunodeficiency. Biomicroscopy showed salmon-colored, nodular lesions occupying both fornices and caruncles. Inferior conjunctival biopsy was performed, and MALT lymphoma was diagnosed. Bilateral treatment was initiated with topical interferon-alpha, applied 3 times a day at a concentration of 5 x 10 U/m/d, for 4 months. Complete regression of symptoms and conjunctival lesions was achieved. No recurrences have been observed after 1-year follow-up., Conclusions: We report the use of topical interferon-alpha as treatment for bilateral conjunctival MALT lymphoma in a young child with CHARGE association and hyper-IgM syndrome.

Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome. To date, there have been no reports to document wound healing after cleft lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature. There have been no reported instances of wound healing complications in affected patients. Seventeen percent (3/18) of reported patients required revisions or repair of oronasal fistulae. Cleft lip and palate repair can be performed safely in patients with Hay-Wells syndrome.