PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Diagnosis of oculocutaneous albinism with molecular analysis.

Abstract To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation.
PMID
Related Publications

An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals.

Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.

Albinism and the associated ocular defects.

Ophthalmic features of minimal pigment oculocutaneous albinism.

Variable expression of vision in sibs with albinism.

Authors

Mayor MeshTerms
Keywords
Journal Title american journal of ophthalmology
Publication Year Start




PMID- 8644824
OWN - NLM
STAT- MEDLINE
DCOM- 19960712
LR  - 20170908
IS  - 0002-9394 (Print)
IS  - 0002-9394 (Linking)
VI  - 121
IP  - 6
DP  - 1996 Jun
TI  - Diagnosis of oculocutaneous albinism with molecular analysis.
PG  - 724-6
AB  - PURPOSE: To use molecular analysis to diagnose oculocutaneous albinism in a
      patient with an atypical clinical presentation. METHODS: A 34-year-old woman with
      a history of strabismus and absent cutaneous pigment underwent comprehensive
      ophthalmic examination, visual-evoked potentials to detect altered optic
      decussation, and molecular analysis. RESULTS: Examination showed fine nystagmus, 
      iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25
      in each eye. Misrouting of the retinostriate fibers was demonstrated with
      visual-evoked potentials. Mutations in the tyrosinase gene established the
      diagnosis of oculocutaneous albinism 1 even though the patient had atypical
      clinical features. CONCLUSIONS: Molecular analysis can establish the diagnosis of
      oculocutaneous albinism 1 in the patient with atypical ocular features.
FAU - Summers, C G
AU  - Summers CG
AD  - Department of Ophthalmology, University of Minnesota, USA.
FAU - Oetting, W S
AU  - Oetting WS
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, P.H.S.
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
RN  - EC 1.14.18.1 (Monophenol Monooxygenase)
SB  - AIM
SB  - IM
MH  - Adult
MH  - Albinism, Oculocutaneous/*diagnosis/*genetics/pathology
MH  - Esotropia/complications
MH  - Evoked Potentials, Visual
MH  - Female
MH  - Fundus Oculi
MH  - Humans
MH  - Molecular Biology
MH  - Monophenol Monooxygenase/*genetics
MH  - Mutation
MH  - Nystagmus, Pathologic/complications
MH  - Retina/abnormalities/pathology
MH  - Visual Acuity
EDAT- 1996/06/01 00:00
MHDA- 1996/06/01 00:01
CRDT- 1996/06/01 00:00
PHST- 1996/06/01 00:00 [pubmed]
PHST- 1996/06/01 00:01 [medline]
PHST- 1996/06/01 00:00 [entrez]
AID - S0002-9394(14)70647-6 [pii]
PST - ppublish
SO  - Am J Ophthalmol. 1996 Jun;121(6):724-6.