Sjögren-Larsson syndrome and crystalline maculopathy associated with a novel mutation [2]

Archives of Ophthalmology

Volumn 125, Issue 11, 2007, Pages 1582-1583

  Jean François, Erold ^b   Low, Jessica Y ^b   Gonzales, Christine R ^b   Sarraf, David ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; CRYSTALLIN;

CONJUNCTIVITIS; DNA DETERMINATION; EYE IRRITATION; FLUORESCENCE ANGIOGRAPHY; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; LETTER; MENTAL DEFICIENCY; MYCOSIS; OPTICAL COHERENCE TOMOGRAPHY; PHOTOPHOBIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA FOVEA; RETINA MACULOPATHY; SJOEGREN LARSSON SYNDROME; SPASTICITY; VISUAL ACUITY;

ADULT; ALDEHYDE OXIDOREDUCTASES; CRYSTALLIZATION; DNA MUTATIONAL ANALYSIS; FLUORESCEIN ANGIOGRAPHY; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RETINAL DISEASES; SJOGREN-LARSSON SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 36148973499     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.11.1582     Document Type: Letter

References (5)

1. Brandling-Bennett HA, Liang MG. What syndrome is this? Sjögren-Larsson syndrome. Pediatr Dermatol. 2005;22(6):569-571.
2. Willemsen MA, Cruysberg JR, Rotteveel JJ, et al. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol. 2000;130(6):782-789.
3. Sjögren T. Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macularretinal degeneration: a clinical and genetic study. Acta Genet Stat Med. 1956;6(1, pt 2):80-91.
4. Drenser K, Sarraf D, Jain W, Small KW. Crystalline retinopathies. Surv Ophthalmol. 2006;51(6):535-549.
5. Rizzo WB, Carney G, Lin Z. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999;65(6):1547-1560.