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Biomedical subjects

I H Maumenee

Publications and source records attributed to I H Maumenee.

At least 91 records · Page 5Linked to original sources
PubMed1987

Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.

Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.

Abnormalities, Multiple↗
PubMed1987

Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)].

We studied a family in which congenital cataracts were found in a father and son who had a reciprocal translocation between the short arms of chromosomes 3 and 4 [t(3;4)(p26.2;p15)]. The father's parents and brother had normal chromosomes and no evidence of cataracts. While results of these studies do not prove a causal relationship, they do strongly suggest that the areas near the break points involved in the translocation (3p26.2 and 4p15) would be good sites for further investigations into the genetic basis of this type of cataract.

Cataract↗
PubMed1987

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

The Stickler syndrome is an autosomal dominant hereditary disorder of connective tissue with pleiotropic features including premature osteoarthropathy, mild spondyloepiphyseal dysplasia, vitreoretinal degeneration, and the Pierre-Robin sequence. Genetic linkage studies in two families with the Stickler syndrome have been performed using restriction fragment length polymorphisms associated with the structural gene for type II collagen, COL2A1. No recombinants between the Stickler phenotype and COL2A1 were observed. The total LOD score for linkage of the Stickler syndrome and COL2A1 at a recombination fraction (theta) of zero is 3.59. These findings suggest that, at least in some families, the mutation causing Stickler syndrome affects the structural locus for type II collagen.

Collagen↗
PubMed1987

Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy.

The ophthalmologic findings in 15 patients with childhood adrenoleukodystrophy (ALD) are reviewed. In this X-linked demyelinating disease with adrenal dysfunction, relentlessly progressive visual loss followed by optic atrophy occurs months to years after the diagnosis is established based on neurologic symptoms and biochemical abnormalities. Visual loss is mainly due to central nervous system (CNS) demyelination involving the visual tracts, but primary retinal ganglion cell degeneration may also be operative. All patients in this study were male. Vision ranged from 20/20 to no light perception (NLP). All but one patient with bilateral cataracts had normal anterior segment examinations. Seven patients had exotropia, and esotropia developed in one patient. Electroretinography (ERG) and electrooculography (EOG) findings were normal in two patients with severe visual loss. Macular pigmentary changes were observed in three patients. Optic pallor was noticed in seven patients. Optic nerve hypoplasia was seen in one patient. Visual-evoked responses were abnormal in two patients and borderline in one. Progressive visual field abnormalities were noticed in three patients, large field cuts in two patients, and normal fields in another two patients. The diagnosis of ALD should be considered in all boys presenting with unexplained visual loss, dementia, and adrenal dysfunction.

Adolescent↗
PubMed1986

Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy).

Of eight patients with mucolipidosis III, hyperopic astigmatism, and corneal clouding, five had retinal and optic nerve abnormalities. Two patients had surface wrinkling maculopathy, four patients had various degrees of optic nerve head swelling, and two patients had retinal vascular tortuosity. Electrophysiologic studies of the retina gave normal results in the four patients tested. Visual field defects were present in three of the four patients examined. Color vision was normal in three of the patients. Visual acuity remained unchanged in the seven patients clinically followed from one to 11 years (average, six years).

Adolescent↗
PubMed1986

Cataract extraction and intraocular lens implantation in patients with retinitis pigmentosa or Usher's syndrome.

We report the results of cataract extraction in 26 eyes of 16 patients with retinitis pigmentosa or Usher's syndrome. There was no unusual incidence of intraoperative or postoperative complications in this group. After adequate preoperative counseling, and after we made certain that the patients' expectations were in line with anticipated results, 15 of our 16 patients were satisfied with the surgical outcome. Four patients who had a conventional cataract extraction with postoperative contact lens wear in one eye and an intraocular lens implanted in the other eye preferred the eye with the implant. There was no evidence that intraocular lens implantation interfered with the post-cataract-extraction care of the patients.

Adult↗
PubMed1986

Hereditary pigmented paravenous chorioretinal atrophy.

An affected, but asymptomatic, mother and her three sons presented with pigmented paravenous chorioretinal atrophy. The patients had coarse pigment clumps and areas of chorioretinal atrophy in a paravenous distribution. The severity of chorioretinal changes was variable; two of the patients had macular involvement. Signs of vitreoretinal degeneration were seen in all patients; the sons had associated hyperopia and esotropia. Electroretinography revealed decreased photopic responses with normal scotopic responses in five of six eyes tested. To our knowledge, this is the second account reported of familial occurrence of pigmented paravenous chorioretinal atrophy. The present pedigree is compatible with X-linked or dominant inheritance.

Adult↗
PubMed1986

Fundus flavimaculatus without maculopathy. A clinicopathologic study.

We studied the eyes of a 51-year-old man with the clinical diagnosis of fundus flavimaculatus without macular involvement by light and electron microscopy. Scanning and transmission electron microscopy revealed elevated aggregates of enlarged retinal pigment epithelial cells with apices distended by accumulated lipid membranes with a tubulo-vesicular appearance. Histochemical and ultrastructural studies failed to demonstrate abnormal accumulation of lipofuscin or acid mucopolysaccharide. The disorder, known clinically as fundus flavimaculatus, may represent two or more metabolic disorders of the retinal pigment epithelium characterized by distinct histochemical and ultrastructural features.

Fundus Oculi↗
PubMed1985

The ocular findings in Kniest dysplasia.

We studied seven patients who had Kniest dysplasia. All of the patients had congenital severe myopia and vitreoretinal degeneration. Four patients developed rhegmatogenous retinal detachments. Early surgery on one patient resulted in successful reattachment and 20/50 vision at a three-year follow-up visit. Other ocular findings included cataracts in two patients, dislocated lenses in one patient, and blepharoptosis in one patient.

Abnormalities, Multiple↗
PubMed1985

Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye.

A 5-month-old infant with spondyloepiphyseal dysplasia congenita (SEDC) died after an anoxic episode. Ophthalmologic examination one month before death revealed marked myopia and a normal ophthalmoscopic examination, without evidence of retinal detachment, lattice degeneration, or vitreoretinal changes. On postmortem histopathologic and electron microscopic examination of the eyes, we found the vitreous to have central liquefaction, to be detached in multifocal areas, and exerting traction on the retina. The internal limiting membrane of the retina was thin throughout and displayed many areas of discontinuity. There were multiple areas of preretinal cellular proliferation and a few small areas of retinoschisis. Our observation of extensive vitreoretinal degeneration with traction of the retina indicates that eyes of patients with SEDC are at an increased risk for the development of retinal detachment.

Eye↗
PubMed1985

Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies.

The presence of lipid storage was demonstrated in type C Niemann-Pick disease by histopathologic and ultrastructural studies. Pleomorphic membranous inclusions, with variable proportions of light and dark granular material, were observed within the conjunctival fibrocytes, endothelial cells and pericytes, keratocytes, lens epithelium, retinal ganglion cells, retinal pigment epithelium, fibrocytes in the uveal tract, and optic nerve fibrous astrocytes. Only optic nerve and retinal ganglion cell involvement had clinical counterparts represented by optic nerve pallor and perimacular gray discoloration.

Child↗
PubMed1985

Topical retinoid treatment for various dry-eye disorders.

We evaluated the clinical efficacy of treating various dry-eye disorders using 0.01% and 0.1% (weight/weight) topical all-trans retinoic acid ointment. Twenty-two patients were selected and classified into four major groups: keratoconjunctivitis sicca (6 patients; 11 eyes), Stevens-Johnson syndrome (9 patients; 17 eyes), ocular pemphigoid or drug-induced pseudopemphigoid (3 patients; 6 eyes), and surgery or radiation-induced dry eye (4 patients; 4 eyes), based on the criterion that they remained symptomatic even under maximum tolerable conventional medical and/or surgical therapies. The results indicated that squamous metaplasia with mucin deficiency secondary to goblet cell loss and keratinization may be the basis for the development of clinical symptoms and morbidities, as these epithelial abnormalities were invariably present before treatment. After treatment, all patients demonstrated clinical improvements in symptoms, visual acuity, rose Bengal staining, or Schirmer test. Most importantly, this topical vitamin A treatment caused the reversal of squamous metaplasia as evidenced by impression cytology. Therefore, this treatment may represent the first nonsurgical attempt to treat these disorders by reversing diseased ocular surface epithelium.

Administration, Topical↗
PubMed1985

Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe).

A case of mucopolysaccharidosis, Type II-A (Hunter syndrome, severe) is described, with emphasis on ocular ultrastructural findings. Single membrane-bound structures containing fibrillogranular and, less commonly, multi-membranous material were found in conjunctival epithelium, pericytes and fibrocytes; corneal epithelium, keratocytes, and endothelium; trabecular endothelium; iris pigmented epithelium, smooth muscle, and fibrocytes; ciliary pigmented and nonpigmented epithelium and fibrocytes; retinal pigment epithelium and ganglion cells; optic nerve astrocytes and pericytes; and sclerocytes. The most striking accumulation was in the nonpigmented ciliary epithelium. These findings are compared with those seen in MPS II-B, and in other systemic mucopolysaccharidoses. The nature and distribution of inclusions are not specific to any one disorder, but help to signal the presence of one of the storage disorders. Distension of corneal keratocytes may play a role in the corneal clouding seen in some of these disorders. The importance of tissue examination, especially conjunctival biopsy, in the diagnosis of storage disorders and in assessment of future modes of therapy for the mucopolysaccharidoses is discussed.

Conjunctiva↗