PMC9667117_01
First fundus photograph and fluorescence angiography (FA) of the patient. Fundus photography of the left eye (A) revealed a suspected hemangioma at 10 o 'clock of the peripheral retina. FA of the left eye (B) indicated that there were multiple RH lesions in the peripheral retina with local hyper-fluorescence, which were not shown by fundus photography. Fundus photograph of the right eye (C, D, F) revealed 4 orange-red hemangiomas in the superior and inferior temporal periphery retina with dilated and tortuous feeding and draining blood vessels, and the largest of which was about 3.75 x 2.25mm(white arrow in (D) with neovascular membranes in its temporal side (black arrow in (D). Retinal detachment could be seen from 3 o 'clock to 11 o 'clock with retinal fold formation(white arrow in (F), involving the posterior pole of the eyeball. FA of the right eye (E, G) showed hyper-fluorescence and fluorescence leakage at the lesion, accompanied by a surrounding non perfusion area.
fonc-12-963469-g001.jpg
PMC9667117_01_fonc-12-963469-g001.jpg
f1
Fundus photography further showed retinal detachment with multiple large hemangiomas in the right eye and a suspected hemangioma in the left eye ( Figure 1 ). Prior to this visit, the patient had undergone head CT examination and found an intracranial hemangioma ( Supplementary Figure 1 ), which was subsequently treated surgically at another hospital.
The VHL gene mutation of the patient and her family members. Sequencing analysis revealed a c.233A>G heterozygous missense mutation in VHL gene of the patient (A), resulting in the substitution of Ser from Asn in the 78th amino acid site of VHL protein. The patient's daughter (C) and son (D) showed the same mutation, whereas her husband (B) did not.
fonc-12-963469-g002.jpg
PMC9667117_01_fonc-12-963469-g002.jpg
f2
Moreover, we did ophthalmologic examinations for the patient's family who were willing to be examined and the results were shown in the supplementary materials ( Supplementary Figure 2 ). To further confirm this, the patient and her family underwent genetic sequencing and the results showed a c.233A>G heterozygous missense mutation (amino acid p.Asn78Ser) in exon 1 of the VHL gene of the patient, her daughter and her son ( Figure 2 ), and the genogram of the family was shown in the supplementary materials ( Supplementary Figure 3 ).
Screenshots of the surgery for the patient's right eye. The above screenshots mainly showed the process of pars plana vitrectomy (A), lesion resection (B), endolaser photocoagulation (C) and silicone oil tamponade (D).
fonc-12-963469-g003.jpg
PMC9667117_01_fonc-12-963469-g003.jpg
f3
To further confirm this, the patient and her family underwent genetic sequencing and the results showed a c.233A>G heterozygous missense mutation (amino acid p.Asn78Ser) in exon 1 of the VHL gene of the patient, her daughter and her son ( Figure 2 ), and the genogram of the family was shown in the supplementary materials ( Supplementary Figure 3 ). During the operation, after a 23-gauge(23-G) PPV the four peripheral hemangiomas and the neovascular membranes were extracted using forceps, and an endolaser photocoagulation (argon ion laser, 532nm) was applied around the lesions to repair retinal detachment ( Figure 3 ).
Fundus photography one day and 3 months after the surgery. Fundus photography one day after the surgery showed that the retinal detachment of the right eye recovered (A) and the hemangiomas of the left eye scarred (C) following the treatment. Fundus photography 3 months after the surgery (B, D) showed good fundus recovery in the both eyes.
fonc-12-963469-g004.jpg
PMC9667117_01_fonc-12-963469-g004.jpg
f4
The retinal detachment of the right eye recovered and the hemangiomas of the left eye scarred following the treatment ( Figure 4 ). A timeline figure of the diagnosis and treatment of this case was provided in the supplementary material ( Supplementary Figure 4 ).
PMC9667117_02