ROSAH syndrome

ROSAH syndrome
ROSAH syndrome is inherited via an autosomal dominant manner
CausesMutation in ALPK1 gene

ROSAH syndrome is a rare genetic disorder characterised by Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis and migraine Headache.[1]

Presentation

The main characteristics of this condition are retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache. Other features include ocular inflammation, pancytopenia, recurrent infections and mild renal impairment.

Genetics

This condition is caused by mutations in the ɑ-kinase gene (ALPK1) gene. This gene is located on the long arm of chromosome 4 (4q25). The inheritance of this condition is autosomal dominant.

Diagnosis

This diagnosis is made by sequencing the ALPK1 gene.

Management

There is presently no curative treatment. Management is supportive.

Epidemiology

The prevalence is not known but this is considered to be a rare disease. Only twelve families have been described to date.

History

This condition was first described in 2012 prior to the discovery of the genetics and naming of the condition. [2] The genetic basis of this condition was first published in an ARVO abstract in 2013 and in a complete article in 2019.[1]

References

  1. 1 2 Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM (2019) ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med doi: 10.1038/s41436-019-0476-3
  2. ↑ Tantravahi, Srinivas (March 2012). "An Inherited disorder with splenomegaly, cytopenias, and vision loss". American Journal of Medical Genetics. 158A (3): 475–481. doi:10.1002/ajmg.a.34437. PMC 4242507. PMID 22307799. {{cite journal}}: External link in |ref= (help)
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