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BACKGROUND: Posterior microphthalmos (PM) is a rare condition with poor visual prognosis even after amblyopia treatment. We report a case of PM with achievement of good visual acuity and disappearance of papillomacular retinal folds (PFs) over a period of 7 years.
METHODS: A girl aged 3 years and 5 months was referred to our hospital, after poor visual acuity was identified at a medical checkup for 3-year-olds. She had severe spherical hyperopia: + 17.25 D in the right eye (RE) and + 18 D in the left eye (LE). Her corrected visual acuity was 20/200 in the RE and 20/250 in the LE. PFs were observed in both eyes on optical coherence tomography (OCT), and the diagnosis of PM was made based on the normal corneal diameter and anterior chamber depth. During the course of the disease, a gradual decrease in the height of the PFs was observed on OCT. The corrected visual acuity at age 10 years was 20/20 in the RE and 20/25 in the LE.
CONCLUSIONS: The visual prognosis of PM is poor, and only one case with good visual acuity has been reported in the literature. The patient in the present case not only developed good visual acuity, but also showed improvement in macular morphology, which was not noted in previous reports. Early diagnosis of PM and early amblyopia treatment is important for the visual development in PM.

Posterior microphthalmos (PM) is a rare developmental disorder characterised by high hyperopia, short axial length, presence of retinal papillomacular fold and relatively normal anterior segment findings.
The purpose of the study was to compare the retinal arcade distance from fovea between PM cases and to correlate axial shortening in PM eyes with imaging findings.
This retrospective, comparative case series included 24 eyes of 12 patients with PM as cases and an equal number of age- and sex-matched controls. Retinal findings on optical coherence tomography (OCT), OCT-angiography, Multicolour® image, axial length and corneal biometry were computed, compared and correlated between two groups.
Retinal papillomacular fold was noted in all 24 PM eyes. Retinal arcade narrowing was noted in PM (p < 0.001). The central retina (p < 0.001) and choroid (p = 0.003) was thick in PM. Corneal biometry showed shorter axial length (p < 0.001), high keratometry readings (p < 0.001) and small corneal diameters (p = 0.011) in PM. Vessel density (p = 0.031) on OCTA was denser and foveal avascular zone area (p = 0.033) reduced in PM. Strong negative correlation of axial length with spherical equivalent (r = > -0.804;p < 0.001), vessel density (r = > -0.803; p = <0.001) and K1 (r = > -0.76; p < 0.001) and K2 (r = > -0.67; p = 0.001) keratometry readings was noted in PM. Significant positive correlation was noted between axial length and anterior chamber depth (r = 0.75; p < 0.001), foveal avascular zone area (r = 0.56; p = 0.033) and corneal diameter (r = 0.65; p = 0.001). Vessel density on OCT-angiography correlated positively with central corneal thickness (r = 0.552;p = 0.005) and corneal powers K1 (r = 0.709; p = 0.001) and K2 (r = 0.56; p = 0.004) and negatively with corneal diameter (r = > -0.521; p = 0.033).
Increased choroidal thickening and retinal vascular arcade narrowing were two important, interesting observations noted with PM. Intercorrelation between the axial length, OCT, OCT-angiography and corneal biometry helped in understanding the pathogenesis and the structural and vascular changes in PM eyes.

OBJECTIVE: To describe the choroidal variations in posterior microphthalmos (PM).
METHODS: In this observational case series, four eyes of two patients diagnosed as PM based on the characteristic clinical features were included. Multimodal retinal imaging with clinical fundus documentation using ultrawide field fundus camera, optical coherence tomography (OCT) and indocyanine green angiography (ICGA) was done for these cases.
RESULTS: Multimodal imaging of these cases confirmed the variations in the choroid in PM cases. In both cases, on OCT, the retina and choroid were thick. retinal papillomacular fold (RPMF) was noted in all four eyes. On ICGA, the dye transit time from the arm to choroid and retina were within normal limits. Choroidal vasculature in the far retinal periphery was reduced and was noted as hypocyanescent areas anterior to the equator while the density of choroidal vessels was significantly more posterior to the equator. Vortex veins were not visualised in both cases.
CONCLUSIONS: Choroidal structure and vessels undergo alterations in PM. Further validation of these findings is required in a larger cohort of PM cases.

OBJECTIVE: To determine the area of the surface foveal avascular zone (FAZ) in children with posterior microphthalmos (PM), high hyperopia, and normal eyes using optical coherence tomography (OCT) and OCT angiography (OCTA).
METHODS: Thirty-six children were studied including 6 cases 12 eyes of PM (mean age 9.5 ± 5.2 years), 15 cases 30 eyes of high hyperopia (6.9 ± 1.5 years), and 15 cases 30 eyes of healthy individuals (8.7 ± 1.7 years). The B- and C-scan images in all children were recorded by OCT and OCTA with a scanning area of 3.0 × 3.0 mm centered on the fovea. All images were corrected for axial length differences, and the area of the FAZ surface and central macular thickness (CMT) was measured manually and compared.
RESULTS: The area of FAZ in the PM group was 0.007 ± 0.003 mm2, which was significantly smaller than that in the high hyperopia eyes at 0.286 ± 0.108 mm2 and healthy eyes at 0.318 ± 0.129 mm2 (both P < 0.001). The CMT in the PM group was 401.58 ± 33.60 mm, which was significantly thicker than in the high hyperopia eyes at 202.93 ± 12.28 mm and the normal eyes at 204.43 ± 18.76 mm. The area of the FAZ and CMT in the hyperopia group did not differ significantly from that of the normal healthy eyes.
CONCLUSIONS: These findings indicate that patients with PM have a hypoplastic macular region, which must be considered in any treatment of these eyes.

OBJECTIVE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the underlying genetic causes, including novel pathogenic variants and their functional characterization and (ii) to study the association of retinal dystrophy in patients with MFRP variants, based on a detailed literature review of genotype-phenotype correlations.
METHODS: Patients with nanophthalmos and available family members received a comprehensive ophthalmological examination. Genetic analysis was based on whole-exome sequencing and variant calling in core genes including MFRP, BEST1, TMEM98, PRSS56, CRB1, GJA1, C1QTNF5, MYRF and FAM111A. A minigene assay was performed for functional characterization of a splice site variant.
RESULTS: Seven patients, aged between three and 65 years, from five unrelated families were included. Novel pathogenic variants in MFRP (c.497C>T, c.899-3C>A, c.1180G>A), and PRSS56 (c.1202C>A), and a recurrent de novo variant in FAM111A (c.1706G>A) in a patient with Kenny-Caffey syndrome type 2, were identified. In addition, we report co-inheritance of MFRP-related nanophthalmos and ADAR-related Aicardi-Goutières syndrome.
CONCLUSIONS: Nanophthalmos is a genetically heterogeneous condition, and the severity of ocular manifestations appears not to correlate with variants in a specific gene. However, retinal dystrophy is only observed in patients harbouring pathogenic MFRP variants. Furthermore, heterozygous carriers of MFRP and PRSS56 should be screened for the presence of high hyperopia. Identifying nanophthalmos as an isolated condition or as part of a syndrome has implications for counselling and can accelerate the interdisciplinary care of patients.

UNASSIGNED: We report a case of posterior microphthalmos with characteristic papillomacular retinal folds, pigmentary retinopathy, and optic disc drusen.
UNASSIGNED: A 19-year-old female presented with decreased visual acuity and was found to have bilateral posterior microphthalmos with the presence of papillomacular retinal folds, crowded optic nerves with buried disc drusen, and peripheral retinal pigmentary changes. Optical coherence tomography showed presence of retinal folds involving the inner retinal layers and loss of foveal contour.
UNASSIGNED: Posterior microphthalmos can present with an array of unique clinical findings involving the posterior segment. It is important to recognize these findings as these patients often have decreased visual acuity and are at risk for the development of other posterior complications.

UNASSIGNED: To report a case of posterior microphthalomos (PM) related to PRSS56 gene mutation with long term follow up with multimodal imaging findings.
UNASSIGNED: Single retrospective case report.
UNASSIGNED: A 43-year old male patient presented in 2009 with bilateral reduced vision. Clinical examination and multimodal imaging showed features consistent with posterior microphthalmos with prominent bilateral horizontal papillomacular retinal folds. Posterior pole hyperautofluorescent RPE deposits were present. Gradual worsening of visual acuity and rod and cone photoreceptor function more so on the left was demonstrated during the 8 years of follow up.
UNASSIGNED: Hyperautofluorescent RPE deposits may occur in patients with posterior microphthalmos and such patient\'s may experience only gradual disease progression over long term follow up.

To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family.
Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography, retinography, fluorescein angiography (FA), kinetic visual field (VF), and optical coherence tomography (OCT). Molecular analysis was performed by Sanger sequencing of the entire coding region of the MFRP gene.
All members presented nyctalopia, decreased visual acuity, and constriction of the VF, as well as bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy and ERG results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer, FH, as well as retinal and choroidal folds. We identified a homozygous mutation in intron 9 of the membrane frizzled-related protein (MFRP) gene (c.1124 + 1 G > A).
Our study shows a family with PM and RP due to a mutation in the MFRP gene. The relationship has previously been proven, but this specific mutation has never been described. These gene mutations show wide phenotypic variability, being evident in the presence of foveoschisis, retinal and choroidal folds, and FH, other than PM and RP.

Posterior microphthalmos is a rare condition that can be found in paediatric patients with increased farsightedness and reduced vision. A retrospective study is presented of 5cases of posterior microphthalmia aged between 4 and 13 years. The following parameters were obtained: visual acuity, cycloplegic refractive error, optical biometry, slit lamp examination, intraocular pressure, and ocular ultrasound. The refraction, axial length and average visual acuity was+15.35 Dp, 16.20mm and 0.13, respectively. The fundus was examined, optical coherence tomography was performed, and also retinography and fluorescein angiography in one case. In all cases, the absence of foveal depression and different morphotypes of the papillo-macular fold were observed in the tomography. In the absence of a specific treatment, the appropriate detection, management, and monitoring of this disease is important to improve and maintain the vision of patients and recognise possible complications.