Cataract, and Strabismus

CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

• Cataract

SOURCES: OMIM MENDELIAN

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

• Cataract
• Abnormality of metabolism/homeostasis

SOURCES: ORPHANET MENDELIAN

Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME Is also known as o'donnell-pappas syndrome

• Nystagmus
• Strabismus
• Cataract
• Optic atrophy
• Abnormality of the eye

SOURCES: MESH ORPHANET MENDELIAN

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.

GRANULAR CORNEAL DYSTROPHY TYPE I Is also known as classic gcd|corneal dystrophy groenouw type i|gcd1|granular corneal dystrophy, type i|granular corneal dystrophy type 1|gcdi|corneal dystrophy, punctate or nodular|classic granular corneal dystrophy

• Strabismus
• Cataract
• Corneal dystrophy
• Granular corneal dystrophy
• Punctate corneal dystrophy

SOURCES: MESH OMIM ORPHANET MENDELIAN

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

• Nystagmus
• Cataract
• Reduced visual acuity
• Coloboma
• Iris coloboma

SOURCES: OMIM MENDELIAN

Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).

• Nystagmus
• Cataract
• Microphthalmia
• Glaucoma
• Esotropia

SOURCES: OMIM ORPHANET MESH MENDELIAN

Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.

CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1|cataract, autosomal dominant|catc1|cataract 9, multiple types, with or without microcornea

• Intellectual disability
• Nystagmus
• Strabismus
• Cataract
• Visual impairment

SOURCES: OMIM MENDELIAN

Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.

CATARACT 6, MULTIPLE TYPES; CTRCT6 Is also known as cataract, age-related cortical, 2|cataract, posterior polar, 1|ctpp1|arcc2

• Nystagmus
• Strabismus
• Cataract
• Myopia
• Glaucoma

SOURCES: OMIM MENDELIAN

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

PETERS ANOMALY Is also known as peters congenital glaucoma

• Nystagmus
• Strabismus
• Cataract
• Glaucoma
• Reduced visual acuity

SOURCES: OMIM ORPHANET MENDELIAN