Night blindness, or nyctalopia in medical terminology, refers to a condition in which an individual experiences reduced vision in dark or dimly lit environments. This condition is typically not a standalone disease but rather a symptom of an underlying disorder of the visual system.

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Pathophysiology and Causes

The main cause of night blindness is the dysfunction of rod cells in the retina. The retina is composed of rods and cones, which detect light and transmit visual signals to the brain. Rod cells are responsible for vision in low-light conditions, while cone cells allow for color and sharp central vision. When rod cells are damaged or lose function, the ability to see in the dark is diminished.

One of the most common diseases leading to night blindness is Retinitis Pigmentosa (RP). Retinitis Pigmentosa is a hereditary group of disorders that causes progressive degeneration of rod cells in the retina. Patients often experience night blindness as the first symptom, followed by narrowing of the visual field (tunnel vision), and eventually, as cone cells are affected, significant vision loss may occur.

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Clinical Findings

• Difficulty seeing in dim light or darkness (night blindness)
• Visual field narrowing (tunnel vision)
• In advanced stages, decreased daytime vision
• Bone spicule-shaped pigment deposits observed in retinal examination
• Decreased rod cell function in electroretinography (ERG)

Genetic Aspect

Night blindness, particularly in conditions like Retinitis Pigmentosa, often shows genetic inheritance. Inheritance patterns can include autosomal dominant, autosomal recessive, and mitochondrial transmission. The severity and presentation of the disease may vary among individuals within the same family. Night blindness can also be part of systemic syndromes such as Usher syndrome (involving hearing loss), Alport syndrome, or Kearns-Sayre syndrome.

Diagnostic Methods

• Patient history (especially regarding difficulty seeing at night)
• Eye examination and fundus inspection
• Visual field testing
• Electrophysiological tests (e.g., electroretinography – ERG)
• Genetic testing

Treatment and Management

Currently, there is no definitive or standard treatment for night blindness; however, various methods aim to slow the progression of the underlying diseases:

• Gene Therapy: In 2008, gene therapy for Leber congenital amaurosis caused by RPE65 mutation showed improvement in vision. Similar gene therapies are being researched for RP and related conditions.
• Retinal Pigment Epithelium and Photoreceptor Cell Transplantation: Experimental treatments aim to replace damaged retinal cells.
• Electronic Retinal Implants (Bionic Eyes): Devices developed to partially restore vision in severe cases.
• Pharmacological and Nutritional Approaches: Antioxidants and vitamin supplements (e.g., vitamin A) may help in some patients.
• Supportive Care: Low vision aids and adaptive techniques help patients cope with daily activities.