PMC9082208_01
Patient's ocular features. Fundus photos of right (a) and left (b) eyes. OCTA scans showing reduced macular vessel densities OD (c) and OS (white arrow) (d), normal nerve fiber layer thickness OD (e) and OS (f), and focal areas of poor VD of circumpapillary OD (g) and OS (white arrow) (h). VF results OD showing early inferior arcuate depression and (i) OS showing early superior paracentral depression (j).
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F1
Fundus photographs (shown in Fig. 1a and Fig. 1b) showed tigroid fundii and tilted optic discs with a cup to disc ratio of 0.5 OD and 0.45 OS. Dublin, CA, USA) results showed early inferior arcuate depression OD (shown in Fig. 1i) and early superior paracentral depression OS (shown in Fig. 1j). Version 2018.0.0.18 scanner (Optovue , Freemont, CA, USA) was also performed (shown in Fig. 1c-h. Values for OD and OS (our own calculated normative values in parentheses), respectively, were as follows: average RNFL thickness106 mum and 94 mum (>=95 mum); average GCC thickness 95 mum and 94 mum (>=95 mum); vessel density (VD) macula 49.75% and 49.5% (>=50%); circumpapillary (peripapillary) VD 57% and 56% (>=55%). Perifoveal VDs are calculated as averages of the values shown in Fig. 1c-d, while RNFL and GCC values were obtained from the Optovue machine.
The patient's systemic symptoms of NPS include patella dysplasia (a), fingers with hypoplastic thumbnails and triangular lunulae (b), elbow displaying pterygium and cubitis valgus (c), left iliac horn on x-ray (white arrow) (d), and patellar subluxation on x-ray (white arrow) (e).
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F2
Our patient's systemic manifestations included bilateral thumb hypoplasia, triangular lunulae over the ring fingers, absence of top knuckles on all fingers, and left elbow pterygium with limited range of motion and cubitus valgus (Fig. 2 a-c). Knee x-ray showed left mild lateral patellar subluxation with inferior tilting, and hip x-ray showed iliac horn (shown in Fig. 2 d-e).
Pedigree of our patient's family displays autosomal dominant inheritance. Shaded symbols indicate affected individuals. Arrow indicates the proband and asterisk indicates de novo mutation. Square indicates male and circle indicates female. Symbol with diagonal line indicates deceased individual.
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F3
The rest of the patient's family do not demonstrate clinical signs of NPS as noted in the pedigree presented in Figure 3.