Hereditary Vitreoretinopathy (Stickler, FEVR)

Vitreoretinal Degeneration

Norrie Disease

X-linked recessive

A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

Persistent Hyperplastic Primary Vitreous

A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)

Spondylo-Ocular Syndrome

Autosomal recessive

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Coats Plus Syndrome

Autosomal recessive

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

Incontinentia Pigmenti

X-linked dominant

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Coats Disease

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

Marshall Syndrome

Autosomal dominant

A dominant condition related to Stickler syndrome, caused by changes in COL11A1, with high short-sightedness, a risk of retinal detachment, hearing loss and distinctive facial features.

High Myopia With Cataract and Vitreoretinal Degeneration

Autosomal recessive

A recessive condition caused by changes in both copies of P3H2, with severe short-sightedness, early cataract and vitreoretinal degeneration.