Table 1.

A patient’s odyssee

Timeline	Patient’s story	Doctor’s note
1960’s	Scooter accident as streetlights were turned off at midnight. Missed ferry because of having to drive slow at night	Diagnosed with myopia
Mid-1970’s	Working as a doctor in Africa, notices severe night blindness
Late 1970’s	Medical training Several accidents at home; falls over bicycles and vacuum cleaner; cannot find objects (e.g. tools) Changes medical subspeciality from Paediatrics to Psychiatry because of retinal problems and fear of losing vision	First visit to eye hospital. Chloroquin retinopathy suspected. Normal visual fields (Goldman); bi-phasic dark adaptometry. Retina without pigmentary changes, but also a few thin arterioles and macular changes (spoke-wheel pattern)
1980’s	Quits job as a psychiatrist to travel the world while there is still vision. Works for a year as a doctor on a ship crossing the Atlantic Ocean and travels the Caribbean	Diagnosed with retinitis pigmentosa. Dark adaptometry showed cone response but no rod response. ERG^a described with a- and b-wave present. Retina with discrete pigmentary changes, no bone spicules, thin arterioles, normal optic nerves
1990’s	Serves on the board of the Danish Association of the Blind and the Danish Retinitis Pigmentosa Association Changes career from hospital-based consultant to private practice because of difficulties reading the medical files of patients and problems navigating the corridors of the hospital Works as a consultant in paediatric cases for the Danish High Court Stops driving Several accidents, including a fall from 1.5 m into an unmarked hole resulting in a broken ankle. Ankle has been broken a total of three times Poor hearing and vision make independent travelling dangerous	Visual acuity 20/32; Goldman visual fields 5 degrees with small peripheral islands. Dark adaptometry and ERG shows flat curves. Atrophic optic nerves; no vessels present in peripheral retina; few bone spicules; cystoid macular edema Referred for a hearing tests; results confirm Usher-type hearing loss
2000–	Mobility training Participated in Retina International World Congress in Japan and Brazil	Visual acuity 6/12 and 6/32;, Goldman visual fields < 5 degrees. Peripheral retina with classical bone spicules. Genetic testing reveals two USH2A mutations reported by Dreyer [8]
2016	Becomes totally blind Forced to sell vacation house in Turkey because international travel was economically unrealistic as travel companion was no longer reimbursed	No light perception

^aThe medical records did not contain information on the first electroretinography (ECG) regarding whether it was a scotopic or photopic ERG