1 / 7

HEREDITARY VITREORETINAL DEGENERATIONS

HEREDITARY VITREORETINAL DEGENERATIONS. 1. Stickler syndrome. 2. Congenital retinoschisis. 3. Favre-Goldmann syndrome. 4. Familial exudative vitreoretinopathy. Stickler syndrome. Inheritance - dominant. Presents - firstst decade. Prognosis - RD in 30%. Vitreous. Retina.

neville
Download Presentation

HEREDITARY VITREORETINAL DEGENERATIONS

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. HEREDITARY VITREORETINAL DEGENERATIONS 1. Stickler syndrome 2. Congenital retinoschisis 3. Favre-Goldmann syndrome 4. Familial exudative vitreoretinopathy

  2. Stickler syndrome Inheritance - dominant Presents - firstst decade Prognosis - RD in 30% Vitreous Retina • Empty central cavity • Radial lattice-like degeneration • Membranes extending into cavity • RPE hyperplasia

  3. Ocular associations of Stickler syndrome Congenital non-progressive high myopia (85%) Wedge-shaped cataract (40%) Ectopia lentis (10%) Glaucoma (10%)

  4. Systemic features of Stickler syndrome Facial anomalies Arthropathy • Kyphoscoliosis • Depressed nasal bridge • and midfacial hypoplasia • Joint hyperflexibility • Peripheral • arthropathy • Micrognathia, glossoptosis • and cleft palate

  5. Congenital retinoschisis Inheritance - X-linked Presents - first decade with maculopathy Prognosis - poor (maculopathy, vitreous haemorrhage) ERG - decreased b-wave Maculopathy (100%) Retinoschisis (50%) • Extremely thin inner layer • ‘Bicycle-wheel’ striae • Round inner layer defects • Eventually atrophic

  6. Favre-Goldmann syndrome Inheritance - recessive Presents - first decade with nyctalopia Prognosis - poor ERG - reduced • Vitreous liquefaction • Retinoschisis • Pigmentary retinopathy • White, dendritiform, arborescent peripheral lesions

  7. Familial exudative vitreoretinopathy Inheritance - dominant Presents - infancy Prognosis - poor (RD, vitreous haemorrhage and cataract ) Temporal fibrovascular proliferation similar to ROP Temporal dragging of disc and macula

More Related