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Br J Ophthalmol 87:197-202 doi:10.1136/bjo.87.2.197
  • Original Article
    • Clinical science

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

Table 3

Families and sporadic reports of disorders similar to MRCS

Author(s) Inheritance of trait No affected Clinical features Chromosomal location Gene involved
Hermann33 AD 13 Microphthalmia, moderate myopia +/− retinitis pigmentosa ?
Mackay20 AR 7 Nanophthalmos, retinal degeneration, angle closure glaucoma ?
Bateman34 AD 4 Microcornea, coloboma, posterior staphyloma ?
Bessant et al25 AR 6 Microphthalmia, scleroderma, nystagmus 14q32 (CMIC) ?
Percin et al2 AR (2 families) 4 and 1 Microphthalmia, bilateral iris coloboma, cataracts 14q23.3 CHX10
Othman et al23 AD 16 Nanophthalmos 11p12-q13 (NNO1) ?
Morle26 AD 9 Colobomatous microphthalmia 15q12-q15 (NNO2) ?
Buys21 Sporadic 1 Nanophthalmos, retinitis pigmentosa, disc drusen ?
Ghose et al22 Sporadic 1 Nanophthalmos, microcornea, pigmentary retinal dystrophy ?

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