ALDH1A3 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: aldehyde dehydrogenase 1 family member A3
  • Catalyses formation of retinoic acid, which is required for normal eye and nasal development during embryogenesis
Clinical phenotype
(OMIM phenotype no.)
  • Microphthalmia, isolated 8 (#615113)
  • Autosomal recessive
Ocular features
Systemic features
  • Extraocular features are rare but mainly neurocognitive in nature if present
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Developmental assessment may be indicated
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Fares-Taie L, Gerber S, Chassaing N, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013;92(2):265‐270
  2.  Hsu LC, Chang WC, Hiraoka L, Hsieh CL. Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. Genomics. 1994;24(2):333‐341
  3.  Moretti A, Li J, Donini S, Sobol RW, Rizzi M, Garavaglia S. Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD+ and retinoic acid. Sci Rep. 2016;6:35710
  4.  Roos L, Fang M, Dali C, et al. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. Clin Genet. 2014;86(3):276‐281
  5.  Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Mutations in ALDH1A3 cause microphthalmia. Clin Genet. 2013;84(2):128‐131

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Updated on November 30, 2020
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