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Variable expression of vision in sibs with albinism.

Abstract Oculocutaneous albinism is defined by the presence of cutaneous and ocular hypopigmentation, the latter associated with nystagmus, iris transillumination, reduced retinal pigment, foveal hypoplasia, and misrouting of the optic fibers at the chiasm. The visual acuity is variable but almost always reduced. We report on two brothers with oculocutaneous albinism and markedly different visual acuity. One brother has a visual acuity of 20/100, while the second has similar cutaneous pigmentation and visual acuity of 20/20 and had not previously been recognized as having oculocutaneous albinism. Both brothers have foveal hypoplasia and misrouting of the optic fibers at the chiasm. Biochemical analysis suggests that this is a tyrosinase-related type of oculocutaneous albinism. This study demonstrates that careful observation of foveal development in relatives with normal vision is necessary to detect all individuals with albinism in a family. A suspected diagnosis of albinism may be confirmed when the visual-evoked potentials show excessive decussation of the optic fibers at the chiasm.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title american journal of medical genetics
Publication Year Start




PMID- 1951438
OWN - NLM
STAT- MEDLINE
DCOM- 19911220
LR  - 20071115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 40
IP  - 3
DP  - 1991 Sep 1
TI  - Variable expression of vision in sibs with albinism.
PG  - 327-31
AB  - Oculocutaneous albinism is defined by the presence of cutaneous and ocular
      hypopigmentation, the latter associated with nystagmus, iris transillumination,
      reduced retinal pigment, foveal hypoplasia, and misrouting of the optic fibers at
      the chiasm. The visual acuity is variable but almost always reduced. We report on
      two brothers with oculocutaneous albinism and markedly different visual acuity.
      One brother has a visual acuity of 20/100, while the second has similar cutaneous
      pigmentation and visual acuity of 20/20 and had not previously been recognized as
      having oculocutaneous albinism. Both brothers have foveal hypoplasia and
      misrouting of the optic fibers at the chiasm. Biochemical analysis suggests that 
      this is a tyrosinase-related type of oculocutaneous albinism. This study
      demonstrates that careful observation of foveal development in relatives with
      normal vision is necessary to detect all individuals with albinism in a family. A
      suspected diagnosis of albinism may be confirmed when the visual-evoked
      potentials show excessive decussation of the optic fibers at the chiasm.
FAU - Summers, C G
AU  - Summers CG
AD  - Department of Ophthalmology, University of Minnesota, Minneapolis 55455.
FAU - Creel, D
AU  - Creel D
FAU - Townsend, D
AU  - Townsend D
FAU - King, R A
AU  - King RA
LA  - eng
GR  - GM22167/GM/NIGMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Melanins)
RN  - EC 1.14.18.1 (Monophenol Monooxygenase)
SB  - IM
MH  - Adolescent
MH  - Albinism, Oculocutaneous/*complications/genetics
MH  - Child, Preschool
MH  - Eye Color
MH  - Hair Cells, Auditory/enzymology
MH  - Hair Color
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Melanins/metabolism
MH  - Melanocytes/ultrastructure
MH  - Monophenol Monooxygenase/metabolism
MH  - Nystagmus, Pathologic/complications/genetics
MH  - Vision Disorders/*complications/genetics
MH  - Visual Acuity/genetics
EDAT- 1991/09/01 00:00
MHDA- 1991/09/01 00:01
CRDT- 1991/09/01 00:00
PHST- 1991/09/01 00:00 [pubmed]
PHST- 1991/09/01 00:01 [medline]
PHST- 1991/09/01 00:00 [entrez]
AID - 10.1002/ajmg.1320400316 [doi]
PST - ppublish
SO  - Am J Med Genet. 1991 Sep 1;40(3):327-31. doi: 10.1002/ajmg.1320400316.