An 1-month-old male infant, born at the gestational age of 35 weeks weighing 2,293 g was examined for the evaluation of retinopathy of prematurity (ROP). He had suffered from birth asphyxia and disseminated intravascular coagulation during the first week. Other metabolic or hematologic abnormalities were not detected and imaging of brain, orbit, chest and abdomen showed normal findings without evidence of trauma or tumor. Ocular examination revealed normal anterior segments, but fundus examination was limited due to dense vitreous hemorrhage in both eyes. Ultrasonography showed vitreous hemorrhage and retinal elevation in both eyes. Any intraocular mass with acoustic shadowing was not detected (Fig. 1A). No family history of retinal disorder or bleeding tendency was elicited.

Surgical intervention was recommended for both diagnostic and therapeutic purposes. Under general anesthesia, vitrectomy was done in each eye with 1 month interval. The intraoperative findings were similar in both eyes. Massive vitreous hemorrhage filling vitreous cavity was carefully removed to avoid resection of retina. Lensectomy was inevitably done in each eye during operation, because of the risk of damaging or severing retina. During vitrectomy, thin membrane looking like the inner part of schisis cavity was detected. The inner layer and unsupported vessels were excised to facilitate evacuation of intraschisis hemorrhage and to prevent postoperative bleeding. As intraschisis cavities were nearly cleared, the stump of inner layer with adherent intraschisis blood clot appeared. The outer layer of the schisis retina and non-schisis retina could be seen together on both sides of the stump as demarcation line. During surgeries, diffuse subretinal hemorrhage was observed (Fig. 1E-F).4 There was not any fibrovascular proliferation or tractional membrane. At 2 months after the last vitrectomy, eletroretinogram (ERG) was flat in both eyes. All six exons and flanking regions in XLRS1 gene were directly sequenced, but known gene mutations were not detected.5

One 3-month-old male infant was referred with esodeviation of his left eye. He had no perinatal problems and was full-term delivery. There was no family history of bleeding tendency or retinal disorder. His fix and follow was poor to moderate in both eyes. Fundus examination under general anesthesia revealed bilateral retinoschisis involving maculae with vitreous and intraschisis hemorrhage obscuring retina. The schisis involved the temporal retina in his right eye and nearly total retina except the nasal part in his left eye. The absorption of initial vitreous hemorrhage was observed during regular follow-up but recurred vitreous hemorrhage was detected at the age of 38 months. Fundus findings were stationary without progression with partially remnant hemorrhage at the age of 42 months on the last follow-up (Fig. 2). The ERG showed typical "negative ERG" of retinoschisis in both eyes. XLRS-related gene (RS1) mutation (c.544C>T, p.Arg182Cys) was detected in the infant and his mother.5