Entry - 180210 - RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT - OMIM

 
ICD+
180210

RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT


Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
HEAD & NECK
Eyes
- Pericentral retinal dystrophy
- Pigmentary retinal degeneration
- Night blindness
- Late blindness
- Bony spicule pigmentary retinopathy
- Attenuated retinal vessels
- Retinal atrophy
▲ Close

▼ TEXT

Grondahl (1987) diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by Traboulsi et al. (1988); see 268060.


▼ REFERENCES

  1. Grondahl, J. Pericentral retinal dystrophy. Acta Ophthal. 65: 344-351, 1987. [PubMed: 3618160, related citations] [Full Text]

  2. Traboulsi, E. I., O'Neill, J. F., Maumenee, I. H. Autosomal recessive pericentral pigmentary retinopathy. Am. J. Ophthal. 106: 551-556, 1988. [PubMed: 3189470, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 12/30/1988
Edit History:
mimadm : 3/25/1995
carol : 11/18/1993
carol : 3/26/1992
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989

180210

RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT


ORPHA: 791;   DO: 0110420;  



TEXT

Grondahl (1987) diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by Traboulsi et al. (1988); see 268060.


REFERENCES

  1. Grondahl, J. Pericentral retinal dystrophy. Acta Ophthal. 65: 344-351, 1987. [PubMed: 3618160] [Full Text: https://doi.org/10.1111/j.1755-3768.1987.tb08517.x]

  2. Traboulsi, E. I., O'Neill, J. F., Maumenee, I. H. Autosomal recessive pericentral pigmentary retinopathy. Am. J. Ophthal. 106: 551-556, 1988. [PubMed: 3189470] [Full Text: https://doi.org/10.1016/0002-9394(88)90584-3]


Creation Date:
Victor A. McKusick : 12/30/1988

Edit History:
mimadm : 3/25/1995
carol : 11/18/1993
carol : 3/26/1992
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 30, 2024