#Lattice degeneration of retina skin
There is a progressive increase in the fragility of the connective tissue, resulting in hyperextension and skin fragility, generalized joint laxity, recurrent joint dislocation, skeletal deformities, and giant subcutaneous hematomas. Patients with mcEDS are characterized by developmental abnormalities, e.g., congenital contractures of multiple joints, and abnormalities of the cardiovascular system, respiratory system, urinary system, central nervous system, and ocular systems. The genetic diagnosis of mcEDS-DSE played an important role before and during the surgery by alerting the surgeons to possible surgical complications due to the thin sclera. The peripapillary retinal hemorrhages, thin sclera, and bradycardia were most likely due to the fragility of the eye. The retina was reattached postoperatively, and the peripapillary hemorrhage was absorbed after one month. Subretinal or choroidal hemorrhages were not observed intraoperatively however, a peripapillary hemorrhage was observed one day after operation. The patient developed frequent bradycardia during the surgery. The sclera did not appear blue but was very thin at the sclerotomy site. The patient underwent scleral buckling surgery and cryopexy with drainage of subretinal fluid through a sclerotomy under local anesthesia. The RRD extended to the macula and was associated with an atrophic hole. We report our findings in a 24-year-old woman who was diagnosed with mcEDS-DSE in childhood and presented to our clinic with an RRD in the left eye.
However, a case with rhegmatogenous retinal detachment (RRD) has not been reported.
Eight patients with mcEDS-DSE have been described with ocular complications, including blue sclera, strabismus, high refractive errors, and elevated intraocular pressure. Musculocontractural Ehlers–Danlos syndrome, caused by biallelic loss-of-function variants for dermatan sulfate epimerase (mcEDS-DSE), is a rare connective tissue disorder.
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