OBJECTIVE: To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferritinemia cataract syndrome (HHCS). METHODS: A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected. Genetic testing was carried out for the child, and the result was analyzed in the light of literature review to explore the clinical and genetic characteristics to facilitate early identification. RESULTS: The patient, a 3-year-old male, had mainly presented with visual impairment, progressive cognitive and motor regression, and epilepsy. Cranial magnetic resonance imaging revealed deepened sulci in bilateral cerebral hemispheres, and delayed myelination. The activity of palmitoyl protein thioesterase was low (8.4 nmol/g/min, reference range: 132.2 ~ 301.4 nmol/g/min), whilst serum ferritin was increased (2417.70 ng/mL, reference range: 30 ~ 400 ng/ml). Fundoscopy has revealed retinal pigment degeneration. Whole exome sequencing revealed that he has harbored c.280A>C and c.124-124+3delG compound heterozygous variants of the PPT1 gene, which were respectively inherited from his father and mother. Neither variant has been reported previously. The child has also harbored a heterozygous c.-160A>G variant of the FTL gene, which was inherited from his father. Based on the clinical phenotype and results of genetic testing, the child was diagnosed as CLN1 and HHCS. CONCLUSION The compound heterozygous variants of the PPT1 gene probably underlay the disorders in this child. For children with CLN1 and rapidly progressing visual impairment, ophthalmological examination should be recommended, and detailed family history should be taken For those suspected for HHCS, genetic testing should be performed to confirm the diagnosis.
Child, Preschool ; Humans ; Male ; Cataract/genetics* ; Genetic Testing ; Mutation ; Neuronal Ceroid-Lipofuscinoses/pathology* ; Vision Disorders/genetics*

We reported a rare case of a dialysis patient coincident pituitary prolactinoma with calcification. A 55-year-old woman who had undergone hemodialysis for 8 years was admitted to the nephrology unit because of headache, blurred vision, and hypotension. Physical examination was normal; endocrinological examination demonstrated elevated serum levels of prolactin (> 4240 mIU/L), but other hormonal profiles, such as growth hormon, adrenocorticotropic hormone, thyroid stimulating hormone, free triiodothyronine, free thyroxine, follicle-stimulating hormone and luteinizing hormone, were absolutely or relatively lower. A cranial computed tomography (CT) suggested saddle area a high-density screenage with an anteroposterior diameter of 1.0 cm. A cerebral magnetic resonance scan confirmed the pituitary adenoma accompanied with calcification. Contrast-enhanced T1-weighted images revealed a less enhancing tumor, 14 mm wide round lesion with a high intensity signal. It enlarges the sella turcica, but the optic chiasma is not displaced. We suggest that in the differential diagnosis of any hemodialysis patient with severe headache, hypotension, and visual disturbances, this syndrome should be considered as prompt pituitary adenoma.
Female ; Headache ; parasitology ; Humans ; Middle Aged ; Pituitary Neoplasms ; diagnosis ; physiopathology ; Prolactinoma ; diagnosis ; physiopathology ; Renal Dialysis ; Vision Disorders ; pathology

Hereditary vitreoretinopathies are potentially blinding inherited disorders characterized by an abnormal-appearing vitreous gel and associated retinal changes. Four of these disorders, Stickler's syndrome, Wagner's disease, erosive vitreoretinopathy, and Goldmann-Favre syndrome, exhibit marked syneresis of the vitreous gel. Erosive vitreoretinopathy has associated retinal pigment epithelial changes, poor night vision, visual field defects, and abnormal electroretinographic findings; symptoms not found in Stickler's syndrome. A 36-year-old man with progressive visual loss and a visual field defect had no systemic disease. His vitreous cavity was liquefied. Vitreous strands and a cataract were found in both eyes. Pronounced RPE degeneration was found superotemporally in both eyes and a bullous rhegmatogenous retinal detachment in the left eye accompanied two retinal tears. His visual field showed a ring scotoma in both eyes and the ERG finding was abnormal. We report one case of erosive vitreoretinopathy with retinal pigment epithelial changes, rhegmatogenous retinal detachment, visual field defects, abnormal electroretinographic findings, marked vitreous syneresis and cataract. These symptoms are distinct from previously described entities.
Adult ; Case Report ; Electroretinography ; Eye Diseases/*pathology ; Human ; Male ; Ophthalmologic Surgical Procedures/methods ; Retinal Diseases/*pathology ; Treatment Outcome ; Vision Disorders/diagnosis ; Visual Fields ; Vitreous Body/*pathology

To know the pattern of visual field (VF) defect of low tension glaucoma (LTG), its diffuse and localized VF defects were compared using the significance values (p-value) of mean deviation (MD) and corrected pattern standard deviation (CPSD), which are calculated with STATPAC in Humphrey Visual Field Analyser. Sixteen eyes of LTG were enrolled and 34 eyes of primary open angle glaucoma (POAG) were used as controls. The degree of VF defects in LTG and POAG was relatively mild with the p-value of MD equal to or greater than 1%. Neither mean MD nor mean CPSD of LTG was significantly different from each of POAG (p > 0.8 and p > 0.2, respectively). Comparing the p-values of MD and CPSD, many patients showed more significant p-value of MD in LTG and POAG (62.5% and 61.8%, respectively). However, relatively more severe defect of CPSD tended to occur more frequently in LTG than in POAG (25% and 5.9%, respectively, chi-square = 4.964, p < 0.09). The relation between p-values of MD and CPSD was not significantly influenced by the intraocular pressure, MD or vertical cup to disc ratio in either LTG or POAG.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Glaucoma, Open-Angle/*pathology/physiopathology ; Humans ; *Intraocular Pressure ; Male ; Middle Aged ; Optic Disk/*pathology ; Probability ; Vision Disorders/*pathology ; *Visual Fields

OBJECTIVE: To discuss the characteristics and main problems of eye injuries in forensic identification. METHODS: Sixty cases of eye injury in forensic expertise were retrospectively analyzed according to sex, age, employment, trauma-causing instrument and injury type, respectively. RESULTS: Of the 60 cases there are 61.7% being peasants and workers, 85.0% suffering from blunt trauma and 63.3% suffering from simple contusion. CONCLUSION Eyes injuries was mostly caused by blunt trauma. Pathological change of fundus was an important factor affecting the vision function. The injury-causing instruments, injury sites and medical history of eyes should be considered while evaluating the vision.
Adolescent ; Adult ; Child ; Expert Testimony ; Eye Diseases/pathology* ; Eye Injuries/diagnosis* ; Female ; Forensic Pathology ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Vision Disorders/pathology* ; Wounds, Nonpenetrating/diagnosis* ; Young Adult

To investigate the correlation between optic nerve head configuration and visual field defects, optie nerve head analysis using confocal scanning laser tomography (Heidelberg Retina Tomograph, HRT) and automated static threshold perimetry using a Humphrey Field Analyzer (program C3O-2) were performed on 81 eyes of 44 primary open-angle glaucoma (POAG) patients. The optic nerve head parameters-rim area, rim volume, mean retinal nerve fiber layer thickness, height variation contour, and third moment in contour were measured by HRT and were analyzed for correlation with visual field indices-mean deviation, and corrected pattern standard deviation. All optic nerve hend parameters except HVC correlated significantly with the visual field indices; the highest correlation was between rim area and mean deviation (r = 0.6172, p < 0.O0001). The rim area of the superior and inferior quadrants correlated significantly with the visual field defects in corresponding sectors. Structural optic disc measurements by HRT correlated significantly with funetional optic nerve head damage in POAG
Female ; Glaucoma, Open-Angle/*pathology/physiopathology ; Humans ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Disk/*pathology/physiopathology ; Retina/pathology ; Tomography/*methods ; Vision Disorders/*pathology/physiopathology ; Visual Field Tests ; *Visual Fields

OBJECTIVETo understand the perception for the use of cataract surgical services in a population of acceptors and non-acceptors of cataract surgery in urban Beijing.

METHODSFrom a community-based screening program a total of 158 patients with presenting visual acuity of less than 6/18 on either eye due to age-related cataract were informed about the possibility of surgical treatment. These patients were interviewed and re-examined 36 to 46 months after initial screening. The main reasons for not accepting surgery were obtained using a questionnaire. Vision function and vision-related quality of life scores were assessed in those who received and did not receive surgery.

RESULTSAt the follow-up examination 116 of the 158 patients were available and 36 (31.0%) had undergone cataract surgery. Cases who chose surgery had higher education level than those who did not seek surgery (OR=2.64, 95% CI: 1.08-6.63, P=0.02). There were no significant differences in vision function (P=0.11) or quality of life scores (P=0.16) between the surgery group and the non-surgery group. Main reasons for not having surgery included no perceived need (50.0%), feeling of being "too old" (19.2%), and worry about the quality of surgery (9.6%). Cost was cited by 1 (1.9%) subject as the main reason for not seeking surgery.

CONCLUSIONSThe data suggest that in China's capital urban center for patients with moderate visual impairment there is a relative low acceptance rate of cataract surgery, mainly due to people's perception of marginal benefits of surgery. Cost is not a determining factor as barrier to undergo surgery and patients with poorer education are less likely to undertake surgery.

Aged ; Aging ; pathology ; Animals ; Cataract ; complications ; physiopathology ; Cataract Extraction ; utilization ; China ; Female ; Follow-Up Studies ; Humans ; Male ; Urban Population ; Vision Disorders ; etiology ; physiopathology

Visual loss and field defects commonly occur after acute blood loss. We present a case of bilateral permanent visual field defect in a 30-year-old man after a massive hemorrhage caused by large vessel injury during a right nephrectomy. His postoperative visual acuity decreased significantly, and his visual field showed peripheral constriction and inferior altitudinal field defect in both eyes. A year and a half after the operation, visual acuity recovered to the preoperative level, but the field did not show improvement. We advance that this is a possible result of extensive injury to the occipital area, excluding the corresponding area of the macula.
Acute Disease ; Adult ; Blindness/*etiology ; Blood Loss, Surgical/*physiopathology ; Cerebral Infarction/complications/*etiology ; Humans ; Male ; Nephrectomy ; Occipital Lobe/pathology ; Vena Cava, Inferior/injuries ; Vision Disorders/*etiology ; *Visual Fields

BACKGROUNDThe recent studies have shown that visual performance might be affected by the ocular aberration after the corneal refractive surgery, and try to minimize it. This study was to investigate the effects of photorefractive keratectomy (PRK) and laser in situ keratomileusis (LASIK) on the higher order of wavefront aberration and analysis of their characteristics.

METHODThis prospective study involved 32 eyes with similar refractive powers (-5.0 D to -6.0 D preoperatively). LASIK and PRK were performed with the same parameters of 6 mm diameter optical zone and 7 mm diameter transition zone ablation. Wavefront aberrations were tested using a ray tracing technique preoperatively and 3 months postoperatively. Three measurements were obtained for each condition; the root mean squared wavefront error (RMS), values for overall wavefront aberrations and each order of the Zernike aberrations were analyzed using the Matlab software. The 2-tailed t test was used for statistical analysis.

RESULTSOverall higher order aberrations were increased from (0.550.26) microm preoperatively to (0.930.37) microm for PRK and (0.790.38) microm for LASIK postoperatively. This was a 1.69 fold increase in the PRK group (t = 3.95, P < 0.001) and a 1.43 fold increase in the LASIK group (t = 2.60, P < 0.05). At 3 months, the mean RMS value for higher-order (3rd to 6th) were significantly increased compared with the corresponding preoperative values (P < 0.05). The fourth order aberrations, spherical like aberration, were dominant by a 2.64 fold in PRK and a 2.31 fold in LASIK. Different influences of the PRK group and LASIK group were shown in the various zernike components. The statistically significant differences were seen in C(4)(0), C(4)(+4), C(5)(+1), C(5)(+3), C(5)(+5) and C(6)(+2) of the PRK group and C(3)(-3), C(4)(0), C(5)(-5), C(5)(+5), C(6)(-2) of the LASIK group, which represents a 7.42, 3.58, 9.21, 2.72 and 5.3 fold increases in PRK group, and 6.40, 10.80, 11.06, 3.47 and 6.09 fold increases in LASIK group, respectively. C(3)(-3) in LASIK was higher and C(5)(+1) and C(5)(+3) were lower than those in the PRK group. C(4)(0) (spherical aberration) values were similar between PRK and LASIK, however, C(3)(-1) and C(3)(1) (coma) in LASIK were higher than those in PRK, but these differences are of no statistical significance.

CONCLUSIONSPRK and LASIK may increase ocular higher-order aberrations, but they both have their own features. The difference between the two types of surgery may be correlated with the change of the corneal shape, the conversion of biodynamics, the healing of the corneal cut, and re-structured corneal epithelium and/or the stroma.

Adolescent ; Adult ; Cornea ; pathology ; Humans ; Keratomileusis, Laser In Situ ; adverse effects ; Lasers, Excimer ; Photorefractive Keratectomy ; adverse effects ; Postoperative Complications ; etiology ; Prospective Studies ; Vision Disorders ; etiology ; Visual Acuity

OBJECTIVES: To investigate the characteristics and objective assessment method of visual field defects caused by optic chiasm and its posterior visual pathway injury. METHODS: Typical cases of visual field defects caused by injuries to the optic chiasm, optic tracts, optic radiations, and visual cortex were selected. Visual field examinations, visual evoked potential (VEP) and multifocal visual evolved potential (mfVEP) measurements, craniocerebral CT/MRI, and retinal optical coherence tomography (OCT) were performed, respectively, and the aforementioned visual electrophysiological and neuroimaging indicators were analyzed comprehensively. RESULTS: The electrophysiological manifestations of visual field defects caused by optic chiasm injuries were bitemporal hemianopsia mfVEP abnormalities. The visual field defects caused by optic tract, optic radiation, and visual cortex injuries were all manifested homonymous hemianopsia mfVEP abnormalities contralateral to the lesion. Mild relative afferent pupil disorder (RAPD) and characteristic optic nerve atrophy were observed in hemianopsia patients with optic tract injuries, but not in patients with optic radiation or visual cortex injuries. Neuroimaging could provide morphological evidence of damages to the optic chiasm and its posterior visual pathway. CONCLUSIONS Visual field defects caused by optic chiasm, optic tract, optic radiation, and visual cortex injuries have their respective characteristics. The combined application of mfVEP and static visual field measurements, in combination with neuroimaging, can maximize the assessment of the location and degree of visual pathway damage, providing an effective scheme for the identification of such injuries.
Humans ; Optic Chiasm/pathology* ; Visual Pathways/pathology* ; Visual Fields ; Evoked Potentials, Visual ; Random Amplified Polymorphic DNA Technique ; Hemianopsia/complications* ; Vision Disorders/pathology* ; Optic Nerve Injuries/diagnostic imaging* ; Brain Injuries, Traumatic/diagnostic imaging*