Cataracts, Congenital, Autosomal Recessive 5 Clinical CharacteristicsOcular Features: This type of autosomal recessive congenital cataract has been identified in a single consanguineous family. The lens opacities (not further characterized) are the only ocular abnormalities found in two boys and 1 girl belonging to a single sibship born to parent who were second cousins. Extensive systemic evaluations found no evidence of clinical disease as found in Sengers syndrome [1] (212350 [2]). Systemic Features: There are no systemic abnormalities. GeneticsThis type of cataract results from homozygous mutations in AGK [3] (7q33-q36.1), a lipid metabolism gene. Sengers syndrome [1] (212350 [2]) is also caused by mutations in the same gene. TreatmentTreatment Options: Cataract surgery may be indicated if the opacities are visually significant.. ReferencesArticle Title: Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus [4] Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012 Jun;33(6):960-2. PubMed ID: 22415731
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus [4] Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012 Jun;33(6):960-2. PubMed ID: 22415731
