Table 2.

Clinical Classification for Each Genotype in 51 Patients With Miyake Disease

Characteristic	Total	Group A (Hotspot 1: R45W)	Group B (Hotspot 2: Amino Acids 1196–1201)
VF pattern 1	30	22	8
VF pattern 2	13	4	9
mfERG group 1	1	1	0
mfERG group 2	30	16	14
mfERG group 3	3	0	3
SD-OCT (classical)	41	23	18
SD-OCT (nonclassical)	8	5	3

The studied eye of each participant was randomly selected according to the Random Integer Generator. Patients were classified into two patterns based on the results of VF testing using standard automated perimetry: pattern 1, central scotoma; pattern 2, other scotomas (e.g., paracentral scotoma); or no scotoma, mainly according to a previous publication. Patients were classified into three objective functional groups based on mfERG findings: group 1, paracentral dysfunction with relatively preserved central/peripheral function; group 2, homogeneous central dysfunction with preserved peripheral function; and group 3, widespread dysfunction over the recorded area, according to a previous publication. The “classical” characteristic SD-OCT findings were defined as those showing the blurring of EZ and the absence of the IZ at the macula, according to the previous publication. Subtle changes (nonclassical) were defined as less marked blurring or relatively preserved EZ and local absence of IZ. Three clinical experts classified patients into one of these two groups based on the descriptions of photoreceptor microstructural changes on SD-OCT images. A statistically significant difference was revealed between genotype groups A and B in terms of VF pattern (P = 0.0162), whereas no significant difference was found in mfERG group classification (P = 0.5049) and SD-OCT classification by human experts (P = 0.7334).