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. 1999 Aug;83(8):919–922. doi: 10.1136/bjo.83.8.919

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32

D Bessant 1, K Anwar 1, S Khaliq 1, A Hameed 1, M Ismail 1, A Payne 1, S Mehdi 1, S Bhattacharya 1
PMCID: PMC1723146  PMID: 10413693

Abstract

BACKGROUND—Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait.
METHODS—Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. Eight members of this family underwent clinical examination to determine the nature of the microphthalmia phenotype associated with this locus.
RESULTS—All affected individuals in this family suffered from bilateral microphthalmia in association with anterior segment abnormalities, and the best visual acuity achieved was "perception of light". Corneal changes included partial or complete congenital sclerocornea, and the later development of corneal vascularisation and anterior staphyloma. Intraocular pressure, as measured by Schiotz tonometry, was greatly elevated in many cases.
CONCLUSIONS—This combination of ocular defects suggests an embryological disorder involving tissues derived from both the neuroectoderm and neural crest. Other families with defects in the microphthalmia gene located on 14q32 may have a similar ocular phenotype aiding their identification.



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Figure 1  .

Figure 1  

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Pedigree of the autosomal recessive microphthalmia family, previously linked to chromosome 14q32, with affected individuals denoted by solid symbols. Individual III:8 is, in fact, the sister of IV:2. The marriage of V:1 and V:2 is consanguineous through the family of individual III:1 (V:1's paternal grandfather). Since he is not recorded as a descendant of I:1 and I:2, this does not help to explain the transmission of two disease alleles to VI:4.

Figure 2  .

Figure 2  

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(A) Patient VI:4 (aged 1 year), right eye demonstrating microphthalmia with corneal opacity, but no vascularisation and a clearly defined limbus. (B) Patient V:6 (aged 28 years), left eye with corneal vascularisation and an anterior staphyloma. (C) and (D) Right and left eyes of patient V:4 showing left severe microphthalmia and total sclerocornea. Intraocular pressure, as assessed by standardised Schiotz tonometry, was markedly elevated in five patients (nine out of 16 eyes), including the 1 year old boy (VI:4).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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