Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Ophthalmology. 2015 Aug;122(8):1726-7.e2. doi: 10.1016/j.ophtha.2015.03.001. Epub 2015 Apr 10.

Authors

Arif O Khan¹, Inam N Bifari², Hanno J Bolz³

Affiliations

¹ Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address: arif.khan@mssm.edu.
² Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
³ Center for Human Genetics, Bioscientia, Ingelheim, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.

PMID: 25864795
DOI: 10.1016/j.ophtha.2015.03.001

No abstract available

MeSH terms

Adolescent
Alstrom Syndrome / diagnosis*
Alstrom Syndrome / genetics
Cell Cycle Proteins
Child
Child, Preschool
Electroretinography
Female
Humans
Male
Mutation
Phenotype
Photoreceptor Cells, Vertebrate / pathology
Proteins / genetics
Retinal Dystrophies / diagnosis*
Retinal Dystrophies / genetics
Retrospective Studies
Tomography, Optical Coherence

Substances

ALMS1 protein, human
Cell Cycle Proteins
Proteins