A Predominant Optic Decay Patient with an OPA1 Change

Joohyun Park

doi:10.36648/2471-8041.9.4.294

A Predominant Optic Decay Patient with an OPA1 Change

Joohyun Park^*

Department of Ophthalmology, Oslo University Hospital, Oslo, Norway

*Corresponding Author:: Joohyun Park
Department of Ophthalmology,
Oslo University Hospital, Oslo,
Norway
E-mail: Park_j@ous-hf.no

Received date: March 27, 2023, Manuscript No. IPMCRS-23-16640; Editor assigned date: March 29, 2023, Pre QC No. IPMCRS -22-16640 (PQ); Reviewed date: April 07, 2023, QC No. IPMCRS-22-16640; Revised date: April 18, 2023, Manuscript No. IPMCRS-22-16640 (R); Published date: April 25, 2023, DOI: 10.36648/2471-8041.9.4.294

Citation: Park J (2023) A Predominant Optic Decay Patient with an OPA1 Change. Med Case Rep Vol.9 No.4:294.

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Introduction

To feature the significance of the utility of clinical exome sequencing, and show how it prompted the conclusion of nonsyndromic autosomal predominant optic decay emerging from an autosomal prevailing variation in AFG3L2. Due to optic atrophy, a healthy father and daughter of East African descent lost their vision within the first ten years of life. No extra neurologic or it was identified to neuroimaging irregularities. Clinical exome sequencing was at first performed and given an adverse outcome. Reanalysis of the sequencing information uncovered an autosomal prevailing pathogenic variation in AFG3L2, c.1064C>T (p. Thr355Met), a gene associated with nonsyndromic optic atrophy that was recently discovered. This variation has recently been accounted for in a patient with optic decay, engine aggravations, and an unusual cerebrum X-ray. When initial exome and genome testing fails to provide an answer, an iterative reanalysis process aids in accurate genetic diagnosis for individuals and families as the causes of dominant optic atrophy continue to grow.

Primary Retinal Ganglion Cell Degeneration

The most prevalent type of hereditary optic atrophy is dominant optic atrophy. Visual acuity can range from 20/20 to 20/400, and many pediatric patients are visually asymptomatic due to preservation of peripheral vision. Affected patients typically lack nystagmus and have variable dyschromatopsia that occasionally displays a tritanopic pattern. Visual acuity may range from 20/20 to 20/400. The optic disc may appear as a focal wedge-shaped or saucer-shaped area of temporal pallor or as complete atrophy2, 3, 4. In some cases, hearing loss and other neurologic dysfunction indicative of systemic mitochondrial dysfunction are also present. The absence of a family history does not necessarily rule out the diagnosis because, despite its autosomal dominant transmission, there is a high rate of de novo variation. In most cases, the brain's structural abnormalities are not detected by Magnetic Resonance (MR) imaging. OPA1 mutations, which are mapped to 3q28. Appear to result in primary retinal ganglion cell degeneration, which is the cause of dominant optic atrophy. OPA1 is necessary for the inner mitochondrial membrane to fuse because it is tethered to the inner mitochondrial membrane in the intermembrane space. It encodes for a dynamin-related GTPase that is made in the core prior to being moved into the mitochondria, where it advances mitochondrial biogenesis and settles mitochondrial layer trustworthiness. This GTPase action is known to be basic for retinal ganglion cell advancement and capability. However, approximately 30% of patients with dominant optic atrophy do not have OPA1 mutations that can be detected. Different qualities remember heterozygous transformations for the OPA3 quality that produce predominant optic decay with waterfalls or potentially deafness (containing Costeff condition or 3-methyl glutaconic aciduria) (OMIM # 258501), changes in the Wolfram quality WFS1 that causes latent or prevailing Wolfram or Wolfram-like disorder, separately (OMIM #222370 and #614296), and the DNM1L, the quality related with OPA5 encoding DRP1, a protein that is basic in the guideline of mitochondrial splitting (OMIM #610708). A Somali- American 10-year-old girl was referred for optic atrophy, which causes decreased vision in both eyes. She had a background marked by gentle formative deferral and was working great in school. Her vision had stayed unaltered over late years, and she had been given glasses with insignificant improvement. She didn't take any medications and was otherwise healthy. Her father's blindness made her family history notable [1-3].

Only Slightly Hyperintense on Magnetic Resonance

Upon examination, both eyes had a visual acuity of 20/125–1. There was no afferent pupillary defect, and both pupils responded rapidly to light. She had obsession flimsiness with a little point exotropia that deliberate 6 crystal diopters at distance, 8 crystal diopters at close, on concurrent crystal and cover testing. There was no photophobia, or perplexing pupillary tightening to murkiness. Consequences of cut light biomicroscopy were typical, and intraocular pressures were 14 mm Hg OU. With severe wedge-shaped temporal and mild nasal pallor, both optic discs were small. A slight myopic refractive error was observed during retinoscopy. Maculopathy and peripheral retinopathy were not evident. Goldmann visual field testing showed gentle fringe visual field narrowing reciprocally. The Cirrus OCT examination revealed extensive diffuse loss of the retinal nerve fiber layer, with an average RNFL thickness of 48 m OS and 52 m OD. Motor testing, reflexes, and coordination were all within normal limits during the neurological examination. The optic nerve was only slightly smaller and the neurohypophysis was only slightly hyperintense on Magnetic Resonance (MR) brain imaging. There were no other structural abnormalities, and there was no evidence of ataxia or other neurologic deficit [4-6].

Initial results from exome sequencing were negative, but after reanalyzing the data, a pathogenic variant (mutation) in the ATPase gene AFG3L2 c.1064C>T (p. Thr355Met), which is an atomic quality communicated in mitochondria and liable for Spinocerebellar Ataxia (SCA). Patients with nonsyndromic, 20,21,22, and syndromic optic atrophy were found to have heterozygous autosomal dominant mutations in the AFG3L2 gene, which is associated with Spinocerebellar Ataxia 28 (SCA 28). This discovery began in 2015. Most patients with optic decay were neurologically unblemished, yet some with compound heterozygous variations showed neurological side effects that proposed a passive legacy design. An East African family with optic atrophy is the subject of this report. Entire exome sequencing was performed through GeneDx, a CLIA guaranteed lab, in January of 2020, however no irregularities were distinguished. In September 2021, a diagnosis was made by reanalyzing the initially negative exome sequencing using an iterative bioinformatic process.26 More specifically, the reanalysis revealed a pathogenic variant in the AFG3L2 gene called c.1064C > T (p. Thr355Met). Caporali, et, al. have previously described this variant. in a patient with optic decay, engine unsettling influences, and an unusual cerebrum X-ray at age 19. Case 1's 43-year-old father was examined for a childhood history of bilaterally decreased vision. No ataxia or other neurologic dysfunction was found during a formal neurological examination.