Reis-Bucklers corneal dystrophy;
Corneal dystrophy of Bowman type I;
Granular corneal dystrophy type III

Reis-Bucklers corneal dystrophy (RBCD) is a progressive autosomal dominant dystrophy and patients are born with normal appearing corneas. In the first or second decade of life, corneal opacification and scarring cause marked visual loss and recurrent corneal erosions lead to significant pain. In RBCD, Bowman's membrane is disrupted or absent and instead is replaced by a fibrocellular tissue with deposition of rodlike bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene.

Nervous system disease

TGFBI [HSA:7045] [KO:K19519]

Thiel-Behnke dystrophies (TBCD) is described in [DS:H00952]

PMID:19236704

PMID:18214787

PMID:16900028

Congenital hereditary endothelial dystrophy

Congenital hereditary endothelial dystrophy (CHED) is a rare inheritable disorder of the corneal endothelium characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass opacification without other anterior segment abnormalities, usually evident at birth or in the early years of life. Two subtypes of CHED based on differences in the mode of inheritance are known, an autosomal dominant (CHED1) and an autosomal recessive (CHED2) type. Clinically, both forms of the disorder are similar; the distinction between them is made by the age at onset and the presence or absence of associated symptoms. Both CHED1 and CHED2 have been mapped to chromosome 20. The Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) has been identified as the candidate gene for CHED2. Mutations in SLC4A11 are described in Harboyan syndrome, which is characterized as CHED2 with hearing loss. Most patients with CHED have severe visual impairment and often require penetrating keratoplasty.

Nervous system disease

SLC4A11 [HSA:83959] [KO:K13862]

PMID:18097987

PMID:21203343

PMID:18474783

Autosomal dominant keratitis;
Hereditary keratitis

Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.

Nervous system disease

PAX6 [HSA:5080] [KO:K08031]

PMID:7668281

PMID:9482572

PMID:11309364