The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease.

Purpose: To identify and highlight potential delays in diagnosis and improve the characterization of the providers referring individuals affected with suspected IRDs for specialty care, we performed an analysis of the patients with IRDs seen by an ophthalmic genetics specialty service. In addition, we analyzed the diagnostic yield of genetic testing in patients with IRD in our series and compared this information with other previous studies.

Methods: We analyzed 131 consecutive patients with suspected IRDs referred to an ophthalmic genetics specialty service at a tertiary hospital.

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome with a wide range of phenotypic presentations, including characteristic facial features. A variety of ocular abnormalities have been described in patients with RSTS. The genetic etiology of RSTS is heterogeneous but often involves two major genes, CREBBP (cAMP-response element binding protein-binding protein) and EP300 (E1A binding protein p300), with CREBBP variants responsible for the majority of the cases.

C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.

Variants in the () gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina. In this article, we describe 34 previously reported cases of variant-associated retinopathies and present two new suspected cases.

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.

The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.

Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.

Purpose: Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare variant subtype of mitofusin 2 () associated Charcot-Marie-Tooth disease, with ophthalmic manifestations largely limited to optic atrophy. We report a case series of two sisters with HMSN6A corresponding to known variants in the gene. The proband's mother, maternal aunt, and maternal grandfather were also reportedly affected with the condition, although not examined at our institution.

Occult Macular Dystrophy: a case report and major review.

Background: Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of fundoscopic abnormalities. In patients suspected of having OMD based on unexplained central vision loss and/or photophobia, changes may be detected with spectral-domain optical coherence tomography. Subsequently, the diagnosis can be confirmed with genetic analysis.

Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation.

There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (FOXP3) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome were reported.