An unusual association of macular retinoschisis with progressive familiar intrahepatic cholestasis: A multimodal imaging study

Purpose To evaluate a case of macular retinoschisis associated with a TJP2 mutation in a young woman affected by a Progressive Familiar Intrahepatic Cholestasis (PFIC) using multimodal imaging. Methods Observational case report. Results A 35-year-old woman, undergone a liver transplant for PFIC, was referred to Eye Clinic for complete ophthalmological examination and multimodal imaging. Fundus examination showed no significant alterations in both eyes while multicolor image revealed the presence of several cystes in macular region. The autofluorescence image highlighted small areas of iperautofluorescence in macular region. En-face image showed a “coral shape pattern” and structural optical coherence tomography (OCT) revealed foveal hyporeflective cystic spaces in outer and inner nuclear layers, areas of splitting within the nerve fiber layer (schisis areas) and an initial preretinal fibrosis. Lastly, OCT-angiography (OCT-A) demonstrated small perifoveal teleangectasias and slight reduction of the foveal avascular zone area. Conclusion Multimodal imaging could help to highlight the presence of a rare retinal disorder associated with a gene related systemic disease.

The Association in Myopic Tractional Maculopathy With Myopic Atrophy Maculopathy

Purpose: To investigate the relationship between myopic tractional maculopathy (MTM) and myopic atrophy maculopathy (MAM).Method: Two hundred and six eyes with definitive myopic retinoschisis were assessed in the retrospective observational case series study and the atrophic and tractional features were further evaluated. Atrophic changes were analyzed according to the atrophic component in the ATN classification and the occurrence of gamma zones and delta zones. Tractional changes were evaluated based on different retinoschisis layers, the location and range of outer retinoschisis, retinal detachment, inner lamellar macular hole (ILMH), outer lamellar MH (OLMH), full-thickness MH (FTMH), and paravascular abnormalities.Results: Of all the eyes, 29.6, 42.7, 19.4, and 8.3% presented MAM grades with A1, A2, A3, and A4, respectively. The three layers of retinoschisis and the entire macular retinoschisis had the highest incidences in A2 (38.6%; 54.5%). The numbers of retinoschisis layers and the grades of outer retinoschisis had a weak negative correlation with MAM (r = −0.138, P = 0.048; r = −0.139, P = 0.047). All the eyes had gamma zones, and 82.52% of eyes also had delta zones. The incidence of retinal detachment and OLMH reached the peak in A2 and then decreased gradually. With MAM aggravation, the prevalence of ILMH decreased. Eyes with A1 and A2 were more likely to have OLMH, and those with A3 and A4 were more likely to have FTMH (P = 0.028; OR, 3.423; 95% CI, 1.144–10.236; P = 0.004; OR, 7.752; 95% CI, 1.951–30.803). With the MAM grades growing, the types of paravascular abnormalities increased (r = 0.165, P = 0.018).Conclusion: Diffuse chorioretinal atrophy was the dominant MAM grade in eyes with MTM. In the study, 72.3% of eyes with MTM presented with diffuse chorioretinal atrophy and a tessellated fundus. Over 80% of eyes with MTM had both gamma zones and delta zones. Diffuse chorioretinal atrophy might be a complicated stage for MTM with the highest rate of three layers of retinoschisis, the entire macular retinoschisis, RD, and OLMH. Atrophic progression might involve the development of MH. When MTM combines with well-defined atrophy, the occurrence of FTMH should be noted.

Optic disc pit with multiquadrant peripapillary retinoschisis and choroidal coloboma

An 18-year-old man presented with decreased vision in the right eye (OD) noticed for 1 month. On examination, OD best-corrected visual acuity was 3/60 and the left eye (OS) was 6/6 with intraocular pressure of 12 mm Hg in both the eyes (OU). OD fundus revealed an inferior optic-disc-pit with macular-retinoschisis and an inferior choroidal coloboma. OS fundus was normal. On swept-source optical coherence tomography (SSOCT) radial scans, peripapillary-retinoschisis was seen not only in the macular region but in all the four quadrants. To the best of our knowledge, no such case has been reported of optic disc pit with multiquadrant peripapillary retinoschisis and choroidal coloboma coexisting in the same eye. SSOCT radial scans can help detect subclinical retinoschisis as in this case.

A pilot study on vitrectomy combined with scleral shortening for eyes with myopic macular retinoschisis—2y follow-up results

AIM: To evaluate the effect of vitrectomy combined with scleral shortening for eyes with myopic macular retinoschisis. METHODS: Thirty-seven patients with myopic macular retinoschisis who underwent pars plana vitrectomy (PPV) combined with scleral shortening were reviewed. Axial length (AL), the height of macular retinoschisis, the height of retinal detachment if existed, the diameter of macular hole if existed and best corrected visual acuity (BCVA) were obtained. The preoperative and postoperative parameters were compared. RESULTS: At postoperative 24mo, the mean AL and height of macular retinoschisis were reduced significantly by 0.79 mm and 256.51 μm (t=8.064, P<0.0001; Z=-5.086, P<0.0001) respectively. In addition, the mean height of retinal detachment and diameter of macular hole were also reduced significantly by 365.38 μm and 183.68 μm (Z=-4.457, P=0.000008; Z=-2.983, P=0.003) respectively. Meanwhile, the postoperative BCVA was improved markedly (Z=-2.126, P=0.033). CONCLUSION: Vitrectomy combined with scleral shortening is an effective surgical method for eyes with myopic macular retinoschisis, whether or not macular hole and retinal detachment are present.