Inherited snowflake cataracts

Morton F Goldberg, Mark O M Tso, F. Chen, I. Suvaizdis, R. Spector

Research output: Contribution to journalArticle

Abstract

The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.

Original languageEnglish (US)
Pages (from-to)123-139
Number of pages17
JournalOphthalmic Paediatrics and Genetics
Volume4
Issue number3
StatePublished - 1984

Fingerprint

Cataract
Pedigree
Lenses
Electrons
Staining and Labeling
Calcium

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Goldberg, M. F., Tso, M. O. M., Chen, F., Suvaizdis, I., & Spector, R. (1984). Inherited snowflake cataracts. Ophthalmic Paediatrics and Genetics, 4(3), 123-139.

Inherited snowflake cataracts. / Goldberg, Morton F; Tso, Mark O M; Chen, F.; Suvaizdis, I.; Spector, R.

In: Ophthalmic Paediatrics and Genetics, Vol. 4, No. 3, 1984, p. 123-139.

Research output: Contribution to journalArticle

Goldberg, MF, Tso, MOM, Chen, F, Suvaizdis, I & Spector, R 1984, 'Inherited snowflake cataracts', Ophthalmic Paediatrics and Genetics, vol. 4, no. 3, pp. 123-139.
Goldberg MF, Tso MOM, Chen F, Suvaizdis I, Spector R. Inherited snowflake cataracts. Ophthalmic Paediatrics and Genetics. 1984;4(3):123-139.
Goldberg, Morton F ; Tso, Mark O M ; Chen, F. ; Suvaizdis, I. ; Spector, R. / Inherited snowflake cataracts. In: Ophthalmic Paediatrics and Genetics. 1984 ; Vol. 4, No. 3. pp. 123-139.
@article{d2aa688a27e046ca83711fc321f269df,
title = "Inherited snowflake cataracts",
abstract = "The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.",
author = "Goldberg, {Morton F} and Tso, {Mark O M} and F. Chen and I. Suvaizdis and R. Spector",
year = "1984",
language = "English (US)",
volume = "4",
pages = "123--139",
journal = "Ophthalmic Genetics",
issn = "1381-6810",
publisher = "Aeolus Press",
number = "3",

}

TY - JOUR

T1 - Inherited snowflake cataracts

AU - Goldberg, Morton F

AU - Tso, Mark O M

AU - Chen, F.

AU - Suvaizdis, I.

AU - Spector, R.

PY - 1984

Y1 - 1984

N2 - The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.

AB - The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.

UR - http://www.scopus.com/inward/record.url?scp=0021736611&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021736611&partnerID=8YFLogxK

M3 - Article

VL - 4

SP - 123

EP - 139

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 1381-6810

IS - 3

ER -