Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

“…These genes are otherwise associated with a.r. ( FAM161A 64 – 69 ) or a.d. ( IMPDH1 48 – 50 ) retinitis pigmentosa, or Joubert syndrome ( INPP5E 43 – 45 ). Of note, the patient with FAM161A mutations had a late onset of first symptoms (reduced visual acuity at the age of 50 years) which was followed 2 years later by dark adaption problems.…”

A Nonsense Mutation inFAM161AIs a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

“…It would be interesting to investigate whether the presence of a bull's eye-like maculopathy precedes atrophy of the posterior pole, and would thereby act as a negative prognostic factor for VA in FAM161A-related RP. Or, as suggested by Rose et al, 12 that there might be two different phenotypes as observed by fundus autofluorescence pattern.…”

“…13 The relatively small size of the common haplotype block identified in all mutation carriers, including the previously described German patients, 3 supports the hypothesis that this mutation is an ancestral allele that has spread over northwest Europe, explaining the relatively high prevalence of this mutation in our arRP cohorts. However, the disease haplotype described by Rose et al 12 in British patients with the p.(Arg437*) mutation is different, indicating that this mutation has arisen de novo in at least two different European populations.…”

“…Although the clinical description is often limited, bull's eyelike patterns can be observed in the fundus photographs of some FAM161A-RP patients in other studies. 4,12,24 One of the patients in the report by Bandah-Rozenfeld et al 4 shows a for six patients (P1-P6) carrying mutations in the FAM161A gene. For P7 and P8, no extensive follow-up data were available, only showing the VA at two and one time points, respectively.…”

“…From a clinical point-of-view, the limited number of previous studies dealing with FAM161A mutations has shown a wide range of disease severity, 3,4,12,23,24 although only two reports focus on the phenotype. 12,24 As in other studies, the age of onset of FAM161A-associated RP in our patient cohort was variable, ranging from the first to the third decade of life. Most patients with FAM161A-associated RP display lens opacities and a mild to moderate myopia.…”