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PubMed1973

The orbit.

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Craniofacial Dysostosis↗
PubMed1975

Nanophthalmos with uveal effusion. A new clinical entity.

Five patients exhibited the association of nanophthalmos and uveal effusion, apparently on a familial basis. Glaucoma, occurring in the fourth to sixth decades of life, required surgical intervention that was followed by the development of secondary retinal and choroidal detachment. Recognition of this syndrome is important because: (1) surgical procedures for glaucoma should be avoided, if possible, in order to prevent the development of uveal effusion; (2) retinal detachment surgical procedures are ineffective in uveal effusion and should be avoided, and (3) choroidal elevation occurring in the uveal effusion phase may be erroneously diagnosed as an intraocular tumor and unnecessary enucleation may follow.

Adult↗
PubMed1977

Rhegmatogenous retinal detachment in infancy.

A 5-week-old male infant had small stature, microphthalmia, bilateral rhegmatogenous retinal detachments, ventricular septal defect, and fundus lesions suggestive of previous chorioretinitis. Diagnostic workup failed to disclose a cause of the intraocular disorder. Bilateral retinal detachment surgery, performed when the boy was 2 and 3 months of age, has appeared successful 12 months postoperatively. This may be a description of the youngest patient with rhegmatogenous retinal detachments that were subsequently repaired.

Body Height↗
PubMed1978

Ocular features of Aicardi's syndrome.

Four cases of Aicardi's syndrome are reported. The constant features of this syndrome are infantile spasms, chorioretinopathy, and agenesis of the corpus callosum. The chorioretinopathy appears to be a defect of the pigment epithelium and choroid without significant retinal involvement. Additional ocular features include microphthalmia, colobomas of the optic nerve and choroid, persistent pupillary membrane, and glial tissue extending from the disc. The cause of the syndrome is uncertain. It occurs only in females and is nonfamilial. A male lethal syndrome resulting from a gene on the X chromosome occurring as a spontaneous mutation has been suggested. The possible role of intrauterine infection needs further investigation.

Abnormalities, Multiple↗
PubMed1979

Oculodentodigital dysplasia. Four new reports and a literature review.

Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.

Adolescent↗
PubMed1979

Ocular findings in Kenny's syndrome.

In 1966, Kenny described two patients with an unusual congenital syndrome including dwarfism, thickened long bone cortex, transient hypocalcemia, and normal intelligence. These and other patients previously were incorrectly described as "myopic". Ocular findings in four subjects ranged from uncomplicated nanophthalmos with hyperopia to extreme pseudopapilledema, vascular tortuosity, and mucular crowding. Postmortem findings from one patient showed calcium deposits demonstrable only by special histochemical stains that were distributed uniquely in the cornea. This distribution differed greatly from the pattern seen in band keratopathy. Retinal calcification was also an unusual feature. Because one patient exhibited a pseudodoubling of the optic papilla, the literature was reviewed. We conclude that no convincing case of true doubling of the optic nerve has been described. Ophthalmologists should be alert for undiagnosed electrolyte abnormalities, especially hypocalcemia, in patients with Kenney's syndrome.

Adolescent↗
PubMed1980

Vortex vein decompression for nanophthalmic uveal effusion.

Uveal effusion in nanophthalmic eyes probably is the result of choroidal congestion secondary to imparied vortex venous drainage through the thick sclera that is characteristic of nanophthalmos. Ten eyes with nonrhegmatogenous retinal detachment, occurring in nanophthalmic eyes, were treated by vortex vein decompression and, in some cases, drainage of choroidal and/or subretinal fluid with air injection into the vitreous cavity. Eight of the ten eyes showed reattachment of the retina after this procedure. There results support the hypothesis that choroidal congestion is the basic mechanism of nanophthalmic uveal effusion.

Aged↗
PubMed1982

Nanophthalmic sclera. Ultrastructural, histochemical, and biochemical observations.

Scleral tissue from two cases of nanophthalmos was examined by amino acid analysis, light microscopy, histochemistry, and transmission electron microscopy. Perifibrillar aggregates, similar to proteoglycans, were prominent in the nanophthalmic sclera. The sclerae were thicker than normal and the bundles of collagen fibrils were less ordered. The clinical features of vortex vein compression seem causally related to the disordered and thickened sclera, which, in turn, may be caused by dysfunctional proteoglycans, or interaction with the scleral collagen, or both.

Adult↗
PubMed1987

Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome.

Seven related patients had a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. In addition, each patient had high hyperopia (+9.50 to +16.00) and nanophthalmos (axial lengths, less than 20 mm), with diffuse choroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. Chromosomes were normal. On electroretinographic testing, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times; older patients had severely diminished or extinguished electroretinograms. This family appears to represent a newly recognized autosomal-recessive syndrome.

Adult↗
PubMed1990

Cataract surgery in nanophthalmic eyes.

Cataract surgery in nanophthalmic eyes may be complicated by postoperative uveal effusion. Evidence is presented that prophylactic lamellar scleral resection with decompression of the vortex veins, performed 2 months or more prior to cataract extraction, may reduce the incidence of this severe complication. A randomized study to determine the benefit of such prophylaxis is advocated.

Aged↗