Nowadays, the syndrome HJMD has a prevalence of less than 1/1000000, according to Orphanet [
11]. In all previous reports, reduced visual acuity was the first ocular symptom reported by patients and/or parents, as occurred also in our case. Usually, visual deterioration starts in the first decade of life [
1,
4,
12‐
16]; however, Halford and co-authors described 2 patients who experienced visual loss later [
17]. To date, a total number of 8 cases of HJMD have been described by means of OCT, fundus photography and MfERG. Here we report a rare case of the disease that was analyzed by a multimodal imaging also including OCT-A and confirmed by genetic testing. The c.661C > T mutation detected in our case has a frequency of 2/250996 alleles in the combined gnomAD Database (Genome Aggregated Database, Broad Institute, Cambridge, Massachusetts, USA) [
18] and the consequence is a premature stop codon (p.R221X). In the present case, the onset of visual impairment occurred at the age of 8 years and worsened over the following years. However, at the last follow-up visit (age of 12 years), the visual acuity was 0,3 logMAR in RE and 1 logMAR in LE. The explanation for this different amount of vision between the two eyes is related to the more prominent disruption of the RPE and photoreceptor layers in both eyes with fibrovascular lesion in LE. The asymmetrical presentation of the disease is controversial with different hypotesis: several authors described symmetrical involvement of both eyes [
1,
13,
17] and Indelman et colleagues [
4] described an asymmetrical picture.
In our case, scotopic 0.01 ERG and combined rod and cone dark adapted standard 3.0 flash ERG showed reduced amplitude and MfERGs showed functional alterations in 12.22° of the central retina, which proves a cone-rod dysfunction as evidenced by Nasser F, et al. [
19].
Macular Neovascularization (MNV) may occur in several chorioretinal diseases and has been reported rarely also in patients with inherited retinal dystrophies, accelerating visual loss [
20]. In complex pathologies, OCT-A has provided novel insights into the relationship between flow index in MNV and density of the neovascular network [
21‐
24]. In our patient OCT-A has been useful to confirm the presence of fibrovascular network without performing an invasive examination such as fluorescein angiography.
To our knowledge, our case has some characteristics that make it unique: the country of origin of the child (this is the first Italian case described) as well MNV in LE demonstrating with a multimodal imaging. Conversely, the limited information about long term anatomic and visual outcomes represents the main limitation of the present case report.