Leber-like hereditary optic neuropathy, autosomal recessive 1

Leber-like hereditary optic neuropathy, autosomal recessive 1 is an inherited condition that primarily affects the optic nerve, leading to visual disturbances. Genetic studies have linked this condition to pathogenic variants in the DNAJC30 gene. It is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the altered gene. Precise prevalence estimates are not well established, and the condition appears to be rare within the general population.

A defining clinical feature of this condition is the presence of a central scotoma, a visual field defect that is observed in the vast majority of affected individuals. Patients often notice difficulties with their central vision, which may lead to challenges in reading or recognizing faces. Not all individuals experience all features, and severity varies considerably.

Leber-like hereditary optic neuropathy, autosomal recessive 1 is linked to alterations in the DNAJC30 gene. In this autosomal recessive condition, an individual must inherit two copies of the pathogenic variant – one from each parent – to develop the disorder. This pattern of inheritance implies that parents may each carry one altered gene copy without exhibiting symptoms, and genetic counseling is recommended to discuss recurrence risks and family planning options.

Currently, management of Leber-like hereditary optic neuropathy, autosomal recessive 1 focuses on supportive care and symptom management. While no treatments are specifically approved, a multidisciplinary approach involving ophthalmologists and other specialists is often recommended to help manage visual impairment and optimize quality of life. In addition, several therapies have received orphan drug designation and are under investigation. Patients should discuss treatment options with their healthcare team to determine which interventions may be appropriate for their specific situation, and genetic counseling is advised as part of comprehensive care.

The long-term outlook for individuals with Leber-like hereditary optic neuropathy, autosomal recessive 1 varies and depends on factors such as the age at diagnosis, symptom severity, and access to specialized care. While central vision impairment is a characteristic finding, overall outcomes differ, and not all affected individuals experience the same degree of visual loss. Outcomes described in medical literature continue to evolve as standards of care improve, and many patients benefit from ongoing monitoring and supportive interventions. Families are encouraged to connect with genetic counselors and specialists to better understand the potential implications for vision and overall health.

Although there are no FDA-approved treatments for this condition, clinical trials are underway exploring new treatment approaches. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.