Cases reported • Anophthalmos

1/7. Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

Two sporadic cases of eventration of the diaphragm are reported; one had bilateral colobomatous microphthalmia and the other had anophthalmia. Absence of polydactyly and presence of eventration rather than diaphragmatic hernia helped to exclude Fryns syndrome. These cases together with published cases with overlapping features support the thesis that this combination of defects is nonrandom and of heterogeneous cause. Some cases are due to a pleiotropic gene defect. In other cases, a polytypic developmental field involving an unknown developmental cascade common to the eye and diaphragm may provide a basis for the combination.

- - - - - - - - - -

ranking = 1
keywords = coloboma
(Clic here for more details about this article)

2/7. genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum lod score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.

- - - - - - - - - -

ranking = 1
keywords = coloboma
(Clic here for more details about this article)

3/7. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However, no amino acid sequence alterations were identified in SOX3. We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1.

- - - - - - - - - -

ranking = 1
keywords = coloboma
(Clic here for more details about this article)

4/7. New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.

Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of Fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common "developmental field".

- - - - - - - - - -

ranking = 1
keywords = coloboma
(Clic here for more details about this article)

5/7. Limb-body wall complex with anophthalmos and choroidal coloboma.

A 23-year-old primigravida underwent induced abortion in the 17th week of pregnancy because ultrasound fetometry had indicated possible encephalocele/hygroma of the skull and deformities of limbs and abdominal wall. The fetus delivered showed a deep facial cleft, absence of nose and maxilla, absence of parietal and frontal bones, missing right upper extremity, and a large thoracoabdominal defect with herniation of internal organs. The placenta was large, with an amniotic fold across the fetal surface. The brain was holoprosencephalic with a midline monoventricle and with focal brain wall dysplasia. The right orbit and eye were absent. The left eye was microphthalmic, with an abnormal cornea, a large choroidal coloboma inferiorly, a dysplastic retina, and a cataractous spherical lens. Theories discussed are pathogenesis of the limb-body wall complex (LBWC) and ocular malformations, particularly uveal coloboma. Previous cases of anophthalmos and uveal coloboma are listed. Microscopic examination of the eye was performed in only one of these. The present case is the sixth case published of choroidal coloboma in association with the LBWC.

- - - - - - - - - -

ranking = 8
keywords = coloboma
(Clic here for more details about this article)

6/7. Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?

We present a newborn infant with the asplenia syndrome and unique associated features of corpus callosum agenesis, anophthalmia and coloboma. Previous reports of eye abnormalities or corpus callosum agenesis in patients with asplenia suggest that this may represent a distinct clinically recognisable entity of abnormal lateralisation.

- - - - - - - - - -

ranking = 1
keywords = coloboma
(Clic here for more details about this article)

7/7. Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.

We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. The cause is unknown, but the phenotype resembles the Fryns anophthalmia-plus syndrome, which may be a recessive trait, although intrauterine environmental factors cannot be excluded.

- - - - - - - - - -

ranking = 1
keywords = coloboma
(Clic here for more details about this article)