Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles

We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45–69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions and the length of uninterrupted CGG repeats at the 3′ end were correlated with repeat instability on transmission. Maternal alleles with no AGGs conferred the greatest risk for unstable transmissions. All nine full mutation expansions were inherited from maternal alleles with no AGGs. Furthermore, the magnitude of repeat expansion was larger for alleles lacking AGG interruptions. Transmissions from paternal alleles with no AGGs also exhibited greater instability than those with one or more AGGs. Our results demonstrate that characterization of the AGG structure within the FMR1 repeat allows more accurate risk estimates of repeat instability and expansion to full mutations for intermediate and small premutation alleles. © 2013 Wiley Periodicals, Inc.     

Clinical profile and response to steroids in post-fever retinitis: a nine-year experience from a referral institute in the rural hinterland of Central India

Purpose

To describe the demographics, clinical features, and treatment outcomes with systemic steroids in eyes presenting with post-fever retinitis (PFR) from Central India.

Methods

Single-center, retrospective analysis of 147 eyes of 98 PFR cases between 2011 and 2019.

Results

Mean age of the study cohort was 33.46?±?12.76 years, with 72 males and 26 females. The mean interval between the onset of fever and the diminution of vision was 21.10?±?13.54 days (range 0–60 days). The number of PFR cases increased over the nine years with 89 cases (90.1%) presenting during winters. Unilateral involvement was seen in 49 cases, while 49 had bilateral involvement. Clinical characteristics included: multifocal retinitis (n?=?122; 61.2%), hemorrhages (n?=?132; 89.8%), disc edema (n?=?57; 38.8%), anterior chamber reaction (n?=?28; 19%), and vitritis (n?=?103; 70.1%). Treatment included intravenous followed by oral steroids in 70 patients and oral steroids exclusively in 23; five patients denied treatment. The visual acuity improved from 1.09?±?0.52 LogMAR to 0.29?±?0.42 LogMAR (p?<?0.05).

Conclusion

There has been an increase in the prevalence of PFR cases over the last decade with clustering during the winters. Multifocal retinitis, retinal hemorrhages, and vitritis were the most common clinical findings in our series. The retinitis resolved with improvement in vision following steroid therapy in all eyes.