THIS IS a new era in which gene mutations are beginning to redefine the heritable photoreceptor disorders and bring hope of new treatments. Studies of molecular mechanisms in the living eyes of patients are needed to transform the exciting genetic information into benefit to patients. The stage for patient studies has been set by (1) molecular genetics and biology and (2) the development of techniques for noninvasive studies of molecular events in photoreceptor outer segments. There is an unprecedented opportunity to advance the understanding of the heritable diseases of photoreceptors and gain insights that will lead to treatment, perhaps cure.
In 1990, only 6 years after the human rhodopsin gene was cloned,1 a mutation of that gene was reported in patients with autosomal dominant retinitis pigmentosa.2 Since then, more than four dozen mutations of the human rhodopsin gene have been identified in patients with retinitis pigmentosa. Besides rhodopsin,
Fulton AB, Breton ME. Clinical Physiology of Heritable Photoreceptor Diseases. Arch Ophthalmol. 1993;111(11):1479-1481. doi:10.1001/archopht.1993.01090110045020