Nanophthalmos AD Clinical CharacteristicsOcular Features: In the family reported, vision ranged from NLP to 20/20. Refractive errors ranged from +8.25 to +15.50 D (mean +11.8 D). Axial length ranged from 16.90 to 18.46 mm with a mean of 17.6 mm. Angle closure glaucoma was diagnosed in 6 of 16 (37%) patients. Thickened sclera with prominent scleral vessels was described in affected family members. Optic nerve drusen are often present and increased tortuosity of the retinal vessels has been described. Systemic Features: No systemic abnormalities have been reported in spite of the fact that the TMEM98 gene is widely expressed in body tissues. GeneticsThis is an autosomal dominant disorder resulting from a missense mutation in exon 8 of the TMEM98 (17p12-q12) gene. The mutation has been reported in a single Australian family. Pedigree: Autosomal dominantTreatmentTreatment Options: Lens removal may be considered in individuals with shallow anterior chambers and narrow angles but frequent postoperative macular edema and choroidal effusions have been seen and the visual prognosis is guarded. ReferencesArticle Title: Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12 Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, Craig JE. Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12. JAMA Ophthalmol. 2014 May 22. [Epub ahead of print]. PubMed ID: 24852644 Read more about Nanophthalmos AD
Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12 Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, Craig JE. Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12. JAMA Ophthalmol. 2014 May 22. [Epub ahead of print]. PubMed ID: 24852644
