OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 is an extremely rare genetic condition that was previously listed as a distinct disorder but has since been classified as obsolete in medical databases, meaning it may have been reclassified or merged with another condition. This condition was caused by a small deletion (loss of genetic material) on the short arm of the X chromosome at position 11.3. Affected individuals typically experienced retinitis pigmentosa, a progressive eye disease that damages the retina and leads to gradual vision loss, combined with intellectual disability of varying severity. Retinitis pigmentosa causes the light-sensing cells in the back of the eye to break down over time, leading to night blindness, tunnel vision, and eventually significant vision loss. The intellectual disability component meant that affected individuals had difficulties with learning, reasoning, and adaptive behavior from early in life. Because this entry is now considered obsolete, patients and families who were previously given this diagnosis should consult with a clinical geneticist to determine whether their condition has been reclassified under a more current diagnostic category. Modern genetic testing techniques, such as chromosomal microarray analysis, can now more precisely define the deleted region and the specific genes involved, which may lead to a more accurate and up-to-date diagnosis. Treatment has historically been supportive, focusing on managing vision loss and providing educational and developmental support for intellectual disability.

Bring these to your next appointment

• Q1.Has this diagnosis been reclassified, and what is the most current name for my condition?,What is the exact size of the chromosomal deletion, and which genes are affected?,How quickly is the vision loss expected to progress?,What early intervention services should we start right away?,Are there any clinical trials or emerging gene therapies that might be relevant?,What is the chance of passing this condition to future children?,What specialists should be part of our care team going forward?

Common questions about OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3