{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T22:35:05Z","timestamp":1777674905390,"version":"3.51.4"},"reference-count":41,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Res"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all four families; Sanger sequencing was performed in additional members to test co-segregation of the variants identified. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A&amp;#x3e;C (p.Gln223Pro) in &lt;i&gt;RDH5&lt;\/i&gt; and NM_022567.2:c.908del (p.Gly303ValfsTer45) in &lt;i&gt;NYX&lt;\/i&gt;. In the two other families, the variants NM_002905.4:c.319G&amp;#x3e;C (p.Gly107Arg) in &lt;i&gt;RDH5&lt;\/i&gt; and NM_000541.5:c.874C&amp;#x3e;T (p.Arg292Ter) in &lt;i&gt;SAG&lt;\/i&gt; were identified. These latter mutations have been reported previously, but not in the Pakistani population. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; Our findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab. <\/jats:p>","DOI":"10.1159\/000520895","type":"journal-article","created":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T22:00:57Z","timestamp":1643839257000},"page":"104-110","source":"Crossref","is-referenced-by-count":5,"title":["Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness"],"prefix":"10.1159","volume":"65","author":[{"given":"Hafiz Muhammad","family":"Azhar 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