Microphthalmia and Anophthalmia, ALDH1A3 Associated

Clinical Characteristics
Ocular Features: 

Patients have a variety of ocular malformations including microphthalmia and clinical anophthalmia.  Some have orbital cysts. Imaging may reveal hypoplastic optic nerves and chiasms.

Systemic Features: 

Both cardiac (pulmonary stenosis and septal defects) and neurological deficits (autism spectrum disorders and 'intellectual disability') have been reported.  Birth weight and head circumference are often low.  However, brain imaging has revealed no consistent malformations.


This is an autosomal recessive disorder resulting from homozygous mutations in the gene ALDH1A3 (15q26.3) which encodes the enzyme retinaldehyde dehydrogenase.  Mutations in ALDH1A3 impair the enzymatic oxidation of retinaldehyde important to the synthesis of retinoic acid, a key signaling molecule in eye development. 

However, mutations in other genes important to ocular development such as GJA3 and SOX2 (a transcription factor) may result in a similar phenotype.

Autosomal recessive
Treatment Options: 

No treatment for the ocular problems is available.

Article Title: 

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, G?(c)rard X, Baumann C, Plessis G, Demeer B, Br?(c)tillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia. Am J Hum Genet. 2013 Feb 7;92(2):265-70.

PubMed ID: 
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