PMID- 23229695
OWN - NLM
STAT- MEDLINE
DCOM- 20140612
LR  - 20221207
IS  - 1538-3601 (Electronic)
IS  - 0003-9950 (Print)
IS  - 0003-9950 (Linking)
VI  - 130
IP  - 12
DP  - 2012 Dec
TI  - Characterizing the phenotype and genotype of a family with occult macular 
      dystrophy.
PG  - 1554-9
LID - 10.1001/archophthalmol.2012.2683 [doi]
AB  - OBJECTIVE: To characterize the phenotype of a white patient with occult macular 
      dystrophy (OMD) and her clinically unaffected family members and to determine 
      whether similar mutations were present in the RP1L1 gene in this family. Occult 
      macular dystrophy is a rare macular dystrophy with central cone dysfunction 
      hidden behind a normal fundus appearance that has been attributed to a mutation 
      in the retinitis pigmentosa 1-like 1 (RP1L1) gene in 4 Japanese families. 
      METHODS: In this observational cross-sectional study of 1 white family with OMD, 
      patients meeting the clinical criteria for OMD and their family members were 
      evaluated by use of multifocal electroretinography, the Farnsworth D-15 color 
      vision test, automated perimetry, spectral-domain optical coherence tomography 
      (SD-OCT), fundus autofluorescence, and fundus photography. Fluorescein 
      angiography was performed only on the proband. Members of this family were 
      screened for genetic mutations in the RP1L1 gene. RESULTS: In the family studied, 
      the clinically affected proband was noted to have loss of the foveal outer 
      segments and absence of bowing of the inner segment/outer segment junction on 
      SD-OCT scans. In addition, 1 clinically unaffected family member also 
      demonstrated loss of the foveal photoreceptor outer segments and, therefore, 
      decreased bowing of the inner segment/outer segment junction on SD-OCT scans. The 
      fundus autofluorescence images of the eyes of the proband and her family members 
      were normal. Although mutations in the RP1L1 gene have been identified in 
      sporadic and autosomal dominant OMD pedigrees, no mutations in the RP1L1 gene 
      were found in any of the participants. CONCLUSIONS: Loss of the outer segments of 
      foveal photoreceptors can be detected and quantified by use of SD-OCT in patients 
      with OMD. Similar findings are present in some clinically unaffected family 
      members and may represent subclinical manifestations of the disease. Although 
      mutations in the RP1L1 gene have been described in several Japanese families with 
      OMD, there were no such mutations in this white family of European descent, which 
      suggests that inherited OMD is a genetically heterogeneous disorder.
FAU - Chen, Connie J
AU  - Chen CJ
FAU - Scholl, Hendrik P N
AU  - Scholl HP
FAU - Birch, David G
AU  - Birch DG
FAU - Iwata, Takeshi
AU  - Iwata T
FAU - Miller, Neil R
AU  - Miller NR
FAU - Goldberg, Morton F
AU  - Goldberg MF
LA  - eng
GR  - P30 EY001765/EY/NEI NIH HHS/United States
GR  - R01 EY009076/EY/NEI NIH HHS/United States
GR  - P30EY001765/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Arch Ophthalmol
JT  - Archives of ophthalmology (Chicago, Ill. : 1960)
JID - 7706534
RN  - 0 (Eye Proteins)
RN  - 0 (RP1L1 protein, human)
SB  - IM
EIN - Arch Ophthalmol. 2013 Feb;131(2):225
MH  - Adult
MH  - Cross-Sectional Studies
MH  - Electroretinography
MH  - Eye Proteins/*genetics
MH  - Female
MH  - *Genotype
MH  - Humans
MH  - Macula Lutea/pathology
MH  - Macular Degeneration/*genetics/*pathology
MH  - Male
MH  - *Phenotype
MH  - Tomography, Optical Coherence
MH  - White People
PMC - PMC4114073
MID - NIHMS602108
COIS- Conflict of Interest Disclosures: None reported.
EDAT- 2012/12/12 06:00
MHDA- 2014/06/13 06:00
PMCR- 2014/07/29
CRDT- 2012/12/12 06:00
PHST- 2012/12/12 06:00 [entrez]
PHST- 2012/12/12 06:00 [pubmed]
PHST- 2014/06/13 06:00 [medline]
PHST- 2014/07/29 00:00 [pmc-release]
AID - 1484684 [pii]
AID - 10.1001/archophthalmol.2012.2683 [doi]
PST - ppublish
SO  - Arch Ophthalmol. 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683.