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Purpose: To assess the long-term anatomical and functional findings in patients with symptomatic vitreomacular traction (VMT), with or without full thickness macular hole (FTMH), after eye treatment with intravitreal ocriplasmin injection (IOI). Methods: This longitudinal case series includes 51 eyes from 51 symptomatic patients with VMT (

Background: We present a longitudinal clinical characterization of PYGM-linked pattern dystrophy in an adult male patient.Materials and Methods: A patient affected by McArdle disease (glycogen storage disease type V) and homozygous for the nonsense variant PYGM c.148C>T p.(Arg50*) underwent ophthalmic examinations over a 9-year-interval, including fundus photography, fundus autofluorescence, optical coherence tomography (OCT), OCT-angiography and electroretinography (ERG).Results: At age 52, the patient was asymptomatic but yellow flecks were first observed in the macula of both eyes. This yellow flecks at the posterior pole progressed towards a pattern-like dystrophy over a 5-year-period. By fundus autofluorescence imaging the appearance of new hyperautofluorescent flecks and the extension of existing ones was observed over time. Concomitantly, a slow progression of the size of atrophic areas was seen at the posterior pole. Scotopic ERGs were within normal limits, but photopic Flicker responses were decreased, indicating reduced cone function.Conclusions: This additional case of PYGM-linked pattern dystrophy further confirms retinopathy as a clinical phenotype associated with McArdle disease. PYGM expression pattern suggests a disease mechanism involving impaired glycogen metabolism both in the retinal pigment epithelium and in cone photoreceptors.

Background Whereas crystals deposit in the retina, the cornea and limbus in Bietty corneo-retinal dystrophy (BCD) is now well established and documented, only two published cases report their findings in the lens and no cases deep in the lens cortex. Material and methods Four consecutive adult patients from three different unrelated families presenting lens crystals associated with advanced genetically confirmed BCD were enrolled with advanced disease and long follow up (>12 years). Demographics, visual acuity, slit lamp biomicroscopy, lens and posterior pole photography, optical coherence tomography (OCT), autofluorescence, and screening for CYP4V2 type of mutation were performed. The setting was Jules Gonin Eye Hospital, Switzerland, between 1.1 2013 and 1.11. 2019. Results All patients were European women. The ages ranged from 40 to 81 years. Best Snellen visual acuity ranged from light perception to 1.0. All patients presented with limbus and retinal crystals deposit that disappeared over time and the development of severe chorioretinal atrophy. With long-term follow up, multiple crystal-like deposits appeared in the anterior, posterior lens capsule and cortex. All patients, but one, had homozygous or compound heterozygous mutations in CYP4V2 gene. Conclusions To the best of our knowledge, there are no published cases of crystal deposits in the cortex of the lens of patients diagnosed with BCD associated with CYP4V2 gene mutation. This could be a feature of advanced BCD, and their presence in the lens cortex questions the hypothesis of floating deposits from posterior pole although their exact etiology remains to be determined.

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K), (E35K), p.(L31M), (L31M), p.(R141H), (A195V), p.(R202W), (R202W), and p.(Q220*), (Q220*) in five families. One family showed a novel mutation: p.(E167G), (E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.

To describe the multimodal imaging findings, including optical coherence tomography angiography analysis, and spectrum of etiologies associated with Amalric triangular choroidal infarction. This study is a multicenter, retrospective, observational case series review of the clinical and multimodal imaging findings for six patients with Amalric triangular choroidal infarction. Six patients (10 eyes) with Amalric triangular choroidal infarction were enrolled. Patients' ages ranged from 7 years to 90 years (mean 54 years, median 60 years). Wedge-shaped or triangular areas of choroidal ischemia were evident with fluorescein angiography in all patients and with indocyanine green angiography in one patient. Optical coherence tomography angiography demonstrated choriocapillaris flow reduction that colocalized with outer retinal structural abnormalities with en face optical coherence tomography and corresponded with the triangular zones of choroidal infarction identified with fluorescein angiography in one patient. Etiologies included giant cell arteritis in three cases: traumatic carotid dissection, traumatic retrobulbar hemorrhage, and malignant hypertension secondary to lupus-associated nephropathy. The Amalric triangular syndrome of choroidal infarction can occur as a result of a spectrum of etiologies, especially giant cell arteritis. Infarction is evident on traditional angiography in all cases. Optical coherence tomography angiography may provide a simple noninvasive tool to evaluate choroidal ischemia.

Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX.Case report: A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Multimodal imaging, including autofluorescence, showed a hyperautofluorescent paramacular ring in both eyes. Genetic analysis identified a c.313C>T, p.Q105* nonsense mutation in CRX. The same mutation was identified in his father and uncle. Both of them showed signs of the disease, however with different severity.Conclusion: We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy.

Reference EPFL-ARTICLE-219311doi:10.1055/s-0042-102585View record in Web of Science Record created on 2016-07-19, modified on 2017-05-12

PURPOSE To report on the clinical and electrophysiological findings in a patient with oculo auricular syndrome due to HMX1 mutation with a follow up of 12 years. BACKGROUND Oculo auricular syndrome (MIM: 612109) is a rare developmental recessive condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea posterior synechiae cataract chorioretinal colobomas and rod cone dystrophy. METHODS Retrospective chart review of an affected boy followed over a period of 12 years who had serial complete ophthalmologic examinations fundus photographs Goldmann perimetry and full field electroretinograms (ERG). RESULTS Initial ERG tracings revealed generalized rod more than cone dysfunction. Thereafter a rapid deterioration in rod and cone function was detected on follow up ERGs. CONCLUSION The retinal degeneration in the recessively inherited oculo auricular syndrome is a progressive rod cone dystrophy. Visual prognosis is guarded considering the progressive nature of the retinal dystrophy in early infancy.

Malattia Leventinese, also known as dominant radial drusen or Doyne honeycomb retinal dystrophy, was first described in patients living in the Leventine Valley in canton Ticino of southern Switzerland in 1925. A missense mutation (Arg345Trp) in the gene EFEMP1 was discovered to be causative for both conditions. Malattia Leventinese is reported to be autosomal dominant with variable expressivity phenotype. Characteristic clinical findings consist of radial macular drusen, large confluent drusen, and juxtapapillary drusen, which can be an isolated finding. Early visual symptoms, typically starting at age of 30–50 years, include reduced central vision, photophobia, and metamorphopsia. The vision gradually deteriorates over many years. No curative treatment is available for ML; however, some prophylactic argon laser treatment has been promising in improving visual acuity and reducing the drusen volume. Anti-vascular endothelial growth (VEGF) treatment is efficient in stabilizing a choroidal neovascular membrane.

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive disorder related to mutations in NR2E3. There is early nyctalopia with peripheral field loss and possible macular involvement with loss of central vision. 1 Signs include nummular pigmentary deposition at the level of the retinal pigment epithelium (RPE) around the vascular arcades and foveal schisis. There are no rods; most of an increased number of cones are short-wavelength sensitive. 2 ¿ 4 There are pathognomonic electroretinography (ERG) changes. NR2E3 encodes a transcription factor which promotes differentiation and survival ¿

Objective: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient. Methods: Affected family members were ascertained for phenotypic and genotypic characterization. Ophthalmic evaluations included fundus photography, autofluorescence imaging, optical coherence tomography, and International Society for Clinical Electrophysiology of Vision standard full-field electroretinography. When possible family members had genetic testing. The proband presented with choroidal neovascularization and had intravitreal injections as needed according to visual acuity and optical coherence tomography. Results: Proband had a multifocal type pattern dystrophy, and his choroidal neovascularization regressed after four intravitreal injections. The vision improved from 0.8 to 1.0, and optical coherence tomography showed complete anatomical restoration. A butterfly-shaped pattern was observed in her cousin, whereas a fundus pulverulentus pattern was seen in a second cousin. Aunt had a multifocal atrophic appearance, simulating geographic atrophy in age-related macular degeneration. The Y141C mutation was identified in the peripherin/RDS gene and segregated with disease in the family. Conclusion: This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization. RETINA 32:1942-1949, 2012