@article {512, title = {Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.}, journal = {Invest Ophthalmol Vis Sci}, volume = {59}, year = {2018}, month = {2018 09 04}, pages = {4552-4557}, abstract = {

Purpose: Retinitis pigmentosa (RP) is a genetically heterogeneous trait with autosomal-recessive (ar) inheritance underlying 50\% of genetic disease cases. Sixty-one arRP genes have been identified, and recently, DHX38 has been reported as a potential candidate gene for arRP with only a single family reported with a variant of unknown significance. We identified a missense variant in DHX38 that co-segregates with the arRP phenotype in two Pakistani families confirming the involvement of DHX38 in the etiology of early-onset RP.

Methods: Exome sequencing was performed using two DNA samples from affected members of Pakistani families (MA88 and MA157) with early onset arRP. Sanger sequencing of DNA samples from all family members confirmed the segregation of candidate variant within both families.

Results: A novel missense DHX38 variant c.971G>A; p.(Arg324Gln) was identified which segregates with the arRP phenotype and yielded a logarithm of the odds (LOD) score of 5.0 and 4.3 for families MA88 and MA157, respectively. This variant is predicted to be conserved and deleterious by several bioinformatics tools.

Conclusions: We identified a second deleterious DHX38 variant that segregates with arRP in two families, providing additional evidence that DHX38 is involved in RP etiology. DHX38 encodes for pre-mRNA splicing factor PRP16, which is important in catalyzing pre-mRNA splicing.

}, keywords = {Adolescent, Adult, Cataract, Computational Biology, DEAD-box RNA Helicases, Female, Genes, Recessive, Genetic Association Studies, Genetic Linkage, Humans, Male, Mutation, Missense, Nucleotide Mapping, Ophthalmoscopy, Pedigree, Retinitis Pigmentosa, RNA Splicing Factors, Sequence Analysis, DNA, Whole Exome Sequencing, Young Adult}, issn = {1552-5783}, doi = {10.1167/iovs.18-23849}, author = {Latif, Zahid and Chakchouk, Imen and Schrauwen, Isabelle and Lee, Kwanghyuk and Santos-Cortez, Regie Lyn P and Abbe, Izoduwa and Acharya, Anushree and Jarral, Afeefa and Ali, Imran and Ullah, Ehsan and Khan, Muhammad Nasim and Ali, Ghazanfar and Tahir, Tufail Hussain and Bamshad, Michael J and Nickerson, Deborah A and Ahmad, Wasim and Ansar, Muhammad and Leal, Suzanne M} } @article {48, title = {Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy.}, journal = {Am J Ophthalmol}, volume = {168}, year = {2016}, month = {2016 Aug}, pages = {269-278}, abstract = {

PURPOSE: To compare grading results between short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt macular dystrophy.

DESIGN: Reliability study.

METHODS: setting: Moorfields Eye Hospital, London (United Kingdom).

PATIENTS: Eighteen patients (18 eyes) with Stargardt macular dystrophy.

OBSERVATION PROCEDURES: A series of 3 fundus autofluorescence images using 3 different acquisition parameters on a custom-patched device were obtained: (1) 25\% laser power and total sensitivity 87; (2) 25\% laser power and freely adjusted sensitivity; and (3) 100\% laser power and freely adjusted total sensitivity (conventional). The total area of 2 hypoautofluorescent lesion types (definitely decreased autofluorescence and poorly demarcated questionably decreased autofluorescence) was measured.

MAIN OUTCOME MEASURES: Agreement in grading between the 3 imaging methods was assessed by kappa coefficients (κ) and intraclass correlation coefficients.

RESULTS: The mean {\textpm} standard deviation area for images acquired with 25\% laser power and freely adjusted total sensitivity was 2.04 {\textpm} 1.87~mm(2) for definitely decreased autofluorescence (n~= 15) and 1.86 {\textpm} 2.14~mm(2) for poorly demarcated questionably decreased autofluorescence (n~= 12). The intraclass correlation coefficient (95\% confidence interval) was 0.964 (0.929, 0.999) for definitely decreased autofluorescence and 0.268 (0.000, 0.730) for poorly demarcated questionably decreased autofluorescence.

CONCLUSIONS: Short-wavelength reduced-illuminance and conventional fundus autofluorescence imaging showed good concordance in assessing areas of definitely decreased autofluorescence. However, there was significantly higher variability between imaging modalities for assessing areas~of poorly demarcated questionably decreased autofluorescence.

}, keywords = {Adult, Female, Fluorescein Angiography, Fundus Oculi, Humans, Macula Lutea, Macular Degeneration, Male, Middle Aged, Ophthalmoscopy, Optical Imaging, Reproducibility of Results, Stargardt Disease}, issn = {1879-1891}, doi = {10.1016/j.ajo.2016.06.003}, author = {Strauss, Rupert W and Mu{\~n}oz, Beatriz and Jha, Anamika and Ho, Alexander and Cideciyan, Artur V and Kasilian, Melissa L and Wolfson, Yulia and Sadda, SriniVas and West, Sheila and Scholl, Hendrik P N and Michaelides, Michel} }