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Eye Diseases, Hereditary

Categorical breakdown of terms falling inder the category of Eye Diseases, Hereditary. Sub categories will become more specific in nature to the terms listed for Eye Diseases, Hereditary.

Sub-Categories

Terms

Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficien...

Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted....

Albinism, Oculocutaneous - Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ...

Alstrom Syndrome - Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical featu...

Aniridia - A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of th...

Choroideremia - An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the r...

Corneal Dystrophies, Hereditary - Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at bi...

Corneal Dystrophy, Juvenile Epithelial of Meesmann - An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATI...

Duane Retraction Syndrome - A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduct...

Eye Diseases, Hereditary - Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme...

Fuchs' Endothelial Dystrophy - Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothe...

Graves Ophthalmopathy - An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include conge...

Gyrate Atrophy - Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory re...

Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET ...

Leber Congenital Amaurosis - A rare degenerative inherited eye disease that appears at birth or in the first few months of life t...

Optic Atrophies, Hereditary - Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relati...

Optic Atrophy, Autosomal Dominant - Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color visio...

Optic Atrophy, Hereditary, Leber - A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision l...

Retinal Dysplasia - Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear r...

Retinitis Pigmentosa - Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night bli...

WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...

Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...

Wolfram Syndrome - A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIA...