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Background: There are only few reports about the safety of photodynamic therapy (PDT) with verteporfin in secondary neovascularisations and only scarce reports about the PDT in children, only one of them in preschool-age children. We add the case of a 5 and a half-year-old child with choroidal neovascularisation due to choroidal coloboma. We treated this condition with PDT., Patient: A 5 and a half-year-old-child with choroidal coloboma in both eyes showed a switch of fixation from the right to the left eye and divergent strabismus switched to convergent strabismus, in addition a decrease in visual acuity from 0.4 to 0.04 was recorded. This was caused by a clinically visible subfoveal choroidal neovascularisation from the upper edge of the coloboma. Because no standard therapy is available for this special condition, we decided to treat the child with PDT., Results: PDT with verteporfin was performed without problems after motivation and support of the child by the parents (2.46 mL verteporfin, 4500 microm spot size, 83 seconds treatment time) and led to a complete scaring of the CNV after 14 days. At follow-up 3 and 6 months after therapy we documented only a moderate staining but no fluorescein leakage from the CNV and no macular oedema. Visual acuity increased after occlusion therapy within 24 months to 0.2 and fixation of the treated right eye was restored and resulted in intermittent fixation. Mean while the German "Bundessozialgericht" has decided on the reimbursement rules for this off-label use in very seldom diseases. No recurrence of the CNV was observed within the follow-up time of 5 and a half years., Conclusion: This case proves that PDT is possible and safe in cooperative children including those in preschool age. PDT not only induced scaring of a CNV secondary to choroidal coloboma but also a return of the lost visual acuity.

Background: In eyes with severe organic defects the question arises if amblyopia therapy makes sense., Patients and Methods: Three children are presented in whom despite severe organic eye diseases amblyopia therapy was tried. The first child had a unilateral large macular scar secondary to retinoblastoma treatment, the second a unilateral severe optic nerve atrophy secondary to an orbital hemangioma, and the third a unilateral large optic nerve coloboma., Results: In the first case a reading visual acuity of 0.9 was achieved by occlusion therapy and in the second a reading visual acuity of 0.5. In the third case occlusion lead to alternation of the divergent strabismus (child too strongly retarded for reliable visual acuity measurements)., Conclusions: During the sensitive phase, amblyopia therapy is also indicated in eyes with severe organic defects since good visual acuities can be achieved.

Introduction: The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far., Patients: We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected., Results: In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins., Conclusion: LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.

Unlabelled: A male child with fully developed CHARGE association was referred to our hospital several times because of choanal atresia and suspected hearing loss in his first two years of life. As far as they are a main symptom malformations of the ear appear frequently in CHARGE association. This report describes that an obvious anatomic dysplasia of the inner ear can have normal function, which is shown by objective measurement., Methods and Results: Computed tomography of the petrous bone showed bilateral Mondini malformation of the cochlea combined with bulky deformation of middle ear ossicles. By the age of one year brainstem evoked response audiometry (BERA) was performed. The result demonstrated a hearing loss of 60 dB on the right ear, but no measurable hearing loss on the left ear., Conclusion: This case report proves that a Mondini-type malformation of the cochlea does not need to be combined with hearing loss.

A central retinal detachment caused by coloboma of the optic nerve head in one eye of a 34-year-old Caucasian male was treated successfully by pars-plana vitrectomy, endodiathermy of the hole situated at the periphery of the optic nerve head, drainage of the subretinal fluid and injection of silicone oil into the vitreous cavity. After removal of the silicone oil, the retina was still attached and the retinal function was unchanged. The clinical course is described.

The article reports on a 4-year-old girl with multiple congenital malformations. Ophthalmological examination revealed microphthalmia, bilateral colobomas of iris, leukoma of the right eye, convergent strabismus in the left eye. An oval salmon-coloured area was seen at the fundus of the left eye where the retinal vessesl proceed into the depth. There was no vascular infundibulum. A papilla-like cavity was seen at the bottom left of the coloboma (possibly a circulus zinnii, also called circulus vasculosus nervi optici, may be present). Both papillae are connected with each other by means of a vein. This patient, therefore, presented an extremely rare case of malformation with two papillae in one coloboma.

A case report is given of a 37-year-old women. In her left macula there was an outlined whitish defect about. 1.0 of disc diameter. There is no indication of intrauterine or infantile inflammation, birth haemorrhage or other possibilities.

Report on an orbital cyst in a case of microphthalmus with secondary reactive changes in the retina and retinal pigment epithelium. Plaques of cartilage were found intrascleral by adjacent to the cystic coloboma and in the cyst itself.

A mentally and physically retarded 4 1/2 year-old boy with epileptic seizures showed a megalocornea on both sides, a coloboma of the iris in the right eye and a white area at the temporal side of the disc in the left eye. At first a coloboma of the disc was suspected. By further controls at the age of 8 years a typical two diopters elevated nodular opaque white mass was seen in place of the white area in the left eye, in addition two flat tumours were also seen. In the right eye with coloboma of the iris there was also a flat area. Radiographically the right kidney showed two ureters with flat calyces. At the age of 8 years symmetrical face naevi occurred only under atropine medication, and showed at the age of 10 years the typical picture of Pringle's tumours.

A case of malformation of the tear duct associated with clefts in the face is described. To our knowledge this combination has not been described before. The whole symptoms complex consisted of: bilateral cleft lip upper jaw and gum, choanalatresia, mucocele of the left nasal cavity from adhesions of the lower concha with the nasal septum, cystic dilatation of the tear sac at the connection to a bony naso-lacrimal duct. Right inguinal hernia, syndactyly of the first and second left toes, iris-chroid coloboma right with congenital cataract and unilateral right convergent squint. Because of the advanced dacryocystitis on the basis of the congenital dacryostenosis, and external dacryostorhinostomy (modified after Kaleff 1937) was performed after pre-treatment by instillation of antibiotic solutions in the tear ducts. At the same time the nasal cavity mucocele was opened by partial excision of the lower concha and opening the choanal atresia. After a post-operative course free of complications and with clear patency of the tear ducts the oral surgical operation was done--closure of the face clefts. The chromosome analysis was normal the only abnormal result here was an unexplained slow rate of multiplication of lymphocytes in four cultures inoculated at various points of time. Because we could not find any hereditary factors, this symptom complex is probably due to exogenous embryo damage during the early development phase.

Case report of a 24-year-old woman with combined ocular malformation: bilateral pits in the optic disc and coloboma of choroidea. Complication: macula hole in the colobom-eye. -- Within 3 years preexistent myopia increased 2 dpt in all. Possibly combination of unphysiological retinal traction by coloboma on the one side and axial myopia on the other side is cause of macula hole.

Report on the case of a female infant born with an occipital encephalocele and colobomas of the optic disc, chorioid, and retina. These clinical signs together with respiratory disturbances suggest a Joubert syndrome and a Pfeiffer syndrome. The differential diagnosis of these syndromes is discussed. An analysis of the clinical data indicates a genetic risk of 25% for further siblings.

This is a description of a male patient, now 8-years-old, with the syndrome described by Schimmelpennig-Feuerstein and Mims. Characteristic for this clinical picture, which is classified as a phacomatosis, are a striated and sponge-like naevus sebaceus, disorders of the central nervous system taking the form of debility and epileptic attacks, and multiple anomalies of the eyes, such as microphthalmus, coloboma of the eyelids and optic nerve with ablatio falciformis, as well as dermoids and teratomas of the conjunctiva.