AI Article Synopsis
- A seven-month-old girl had vision problems and was taken to the eye doctor.
- Doctors found she had a rare genetic condition called Mainzer-Saldino syndrome due to two specific mutations identified through testing.
- It's important to keep an eye on her kidney health in the future, even though she only shows vision symptoms right now.
Article Abstract
A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes. No other systemic symptoms or abnormalities were observed. Whole exome sequencing (WES) identified a compound heterozygous mutation in the gene: c.1990G > A (p. Glu664Lys) and c.2214_2217del (p.Asp738GlufsTer47). The genetic results support a diagnosis of Mainzer-Saldino syndrome (MSS). Importantly, c.2214_2217del is a novel mutation in the gene. Although the patient presents with isolated retinal dystrophy, it is crucial to monitor renal function overtime. Taken together, our results reinforce the role of in syndromic ciliopathies. This report also highlights the role of combined WES approaches in identifying underlying mutations in infants presenting with isolated retinal dystrophy, considering MSS may present differently over time.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646644 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2022.100937 | DOI Listing |
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