1/27. Congenital cystic eye: report of two cases and review of the literature.A 13-month-old boy and a 2-week-old girl, who were considered to be anophthalmic and who later each developed a cystic lesion in the left orbit with protrusion of the lower eyelid, were studied. The fellow eye in case 1 was subsequently found to be microphthalmic with cyst and was normal in case 2. Histopathologic study of each case revealed a cyst lined externally by dense fibrous connective tissue to which skeletal muscle and adipose tissue were attached. The inner aspect of the cyst was lined by neuroglial tissue, possible immature retinal tissue, and cuboidal epithelium. No fully developed ocular structures or microphthalmos were identified. Fourteen cases of congenital cystic eye, including our cases, have been published in the English-language literature since 1964. We discuss and illustrate the findings in our cases and 10 others in which histopathologic findings were reported. Congenital cystic eye, microphthalmos with cyst, and microphthalmos with cystic teratoma should be suspected in patients with a small or unrecognizable eye and an orbital cystic mass that is detected by palpation or visualization.- - - - - - - - - - ranking = 1keywords = microphthalmos (Clic here for more details about this article) |
2/27. Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez Arratia et al. [1984] have reported on cases of terminal deletion of the long arm of chromosome 3. In each case the child had multiple anomalies including microphthalmia or anophthalmia. Because our patient appears to have no other anomalies, this break point may indicate that a genetic locus for eye formation exists at chromosome site 3q27. Published 1999 Wiley-Liss, Inc.- - - - - - - - - - ranking = 4.1459571331856keywords = microphthalmia (Clic here for more details about this article) |
3/27. Ophthalmo-acromelic syndrome: report and review.The ophthalmo-acromelic syndrome of Waardenburg is an autosomal recessive trait comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. Some 29 affected individuals have been reported since Waardenburg's first report in 1935 [Waardenburg et al., 1961]. We report on a new case with bilateral anophthalmia and typical limb malformations. The patient also was found to have interruption of the inferior vena cava with azygos continuation as an additional finding. The previous reports are reviewed to elucidate the spectrum of the syndrome.- - - - - - - - - - ranking = 4.1459571331856keywords = microphthalmia (Clic here for more details about this article) |
4/27. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.- - - - - - - - - - ranking = 0.33333333333333keywords = microphthalmos (Clic here for more details about this article) |
5/27. Reconstruction of the lower lid in congenital microphthalmos and anophthalmos.In congenital microphthalmos and anophthalmos, the socket and lids are often underdeveloped. Progressive dilation of the socket often does not increase the horizontal lid aperture or permit the use of a larger prosthesis. The authors present two cases in which a modified Mustarde cheek flap, lined with a tarsal-conjunctival graft, was used to reconstruct and lengthen the lower lid. This procedure results in a larger horizontal lid aperture and permits a larger prosthesis to be contained in the socket.- - - - - - - - - - ranking = 1.6666666666667keywords = microphthalmos (Clic here for more details about this article) |
6/27. 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 = 20.729785665928keywords = microphthalmia (Clic here for more details about this article) |
7/27. 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 = 62.189356997785keywords = microphthalmia (Clic here for more details about this article) |
8/27. Newborn with anophthalmia and features of Fryns syndrome.We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome; however, eye findings are common, particularly microphthalmia and cloudy cornea.- - - - - - - - - - ranking = 4.1459571331856keywords = microphthalmia (Clic here for more details about this article) |
9/27. Fryns "Anophthalmia-Plus" syndrome associated with developmental regression.We report a boy with a nasal deformity, choanal atresia, bifid uvula, severe bilateral microphthalmia and a facial cleft who showed regression of development at the age of 2 years with subsequent improvement. We suggest he represents a further case of the rare Fryns "Anophthalmia-Plus" syndrome.- - - - - - - - - - ranking = 4.1459571331856keywords = microphthalmia (Clic here for more details about this article) |
10/27. Orbito-palpebral reconstruction in anophthalmos and severe congenital microphthalmos.In patients with congenital anophthalmos and severe microphthalmos, a tiny orbit and socket exist with little eyelids, frequently preventing retention of a standard conformer or prosthesis. Socket expansion is sometimes impossible with microorbitism; the retention of a prosthesis is also difficult when malformations of the eyelids exist. The treatment of these difficult cases includes three stages. The first stage is orbital expansion that depends on the cephalometric studies of the patient: transverse osteotomy on the maxilla and the zygomatic bone with lateral bar by extracranial route, vertical osteotomy on the roof of the orbit by intracranial route. In some cases, the osteotomy includes expansion in the transverse and vertical diameter with bone grafts in the defects and on the lateral and superior rims. Simultaneously, socket expansion is performed by incision of the conjunctival sac circumferentially, with mucosal or split skin grafts on a conformer. The second stage includes eyelid reconstruction by different flaps. A third stage is frequently needed for correction of eyelid malposition on the prosthesis: ptosis, entropion surgery. Two cases of congenital anophthalmos are reported. methods and indications of treatment are discussed.- - - - - - - - - - ranking = 1.6666666666667keywords = microphthalmos (Clic here for more details about this article) |
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