Autosomal dominant simple microphthalmos.

Abstract

Congenital bilateral microphthalmos is a rare malformation ofthe eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted.We describe a large pedigree with 14 persons in four generations affected with bilateral microphthlamos without other ocular or systemic signs. An autosomal dominant trait with complete penetrance is proposed. Five subjects underwent a complete ophthalmological evaluation. The total axial length was measured by A scan ultrasonography in all persons. Ultrasonography showed a reduction of the total axial length (range 18-4-19-7 mm) and a reduced vitreous cavity length (range 11-4-13 5 mm) in all investigated patients. All the patients had microcornea (range 8-9-7 mm). No other ocular anomalies or associated systemic malformations were found.A review of published reports also suggests that simple, partial, posterior, pure microphthalmos and nanophthalmos are similar clinical entities sharing total axial length and vitreous cavity length reduction. Therefore, the term simple microphthalmos is proposed to identify these clinical conditions.

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

“…A careful clinical evaluation of the analyzed family revealed, besides the previously described ocular alterations (microphthalmia, uveitis, and glaucoma) that were present in all affected individuals [Vingolo et al, 1994], the presence of extraocular signs that were highly suggestive of an ODDD syndrome. In particular, cranio-facial abnormalities, such as thin hypoplastic nose, dental color anomalies, inverted U-shape (''ogival'') palate, fifth finger campodactily and fine, dry hair were present in some patients (Table I).…”

“…The pedigree of the analyzed family has been previously presented [Vingolo et al, 1994]. Genomic DNA of 21 family members, including 8 affected and 13 unaffected individuals, was available for linkage studies and mutation analysis.…”

“…Here, we report a study of a four-generation Italian family, that was previously reported to be affected by an isolated form of autosomal dominant microphthalmia (MIM 600165), with complete penetrance [Vingolo et al, 1994]. No extra-ocular anomalies and associated systemic malformations were described in this family.…”

Gap junctions in inherited human disease

“…Kjaer et al [65] described a five-generation Danish family with ODDD in which all affected members had a V96M substitution in Cx43. In affected members of the family reported by Vingolo et al [148] having simple microphthalmia without syndactyly, Vitiello et al [149] identified a heterozygous mutation in Cx43. The findings confirmed the highly variable phenotype associated with Cx43 mutations.…”

High-hyperopia database, part I: clinical characterisation including morphometric (biometric) differentiation of posterior microphthalmos from nanophthalmos

“…2 Simple or pure type are those with no malformations and the complex type have ocular associations including colobomas, cysts, tunica vasculosa lentis, corectopia, aniridia, persistent pupillary membrane, and so on. [3][4][5] These changes occur owing to faulty development of the optic vesicle.…”