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    Reti No Blast Oma

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    Reti No Blast Oma

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    Reti No Blast Oma

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    EXPOSITO CLINICAE

    OPHTHALMOLOGY CASE PRESENTATION


    RES MAGNA’

    INSIGHTS ON
    24

    INSIGHT
    A FAMILY OF THREE WARRIORS
    PRESENTOR: SHANMUGA PRIYA M , IIIYEAR M.B.B.S.,
    UNDER THE GUIDANCE OF : DR. RITA HEPSIRANI MD., ASSOCIATE PROFESSOR
    DR.BAAVANNI PREETTII MD., ASSISTANT PROFESSOR
    DEPARTMENT OF OPHTHALMOLOGY, GOVERNMENT THOOTHUKUDI MEDICAL
    COLLEGE, THOOTHUKUDI.
    CHIEF COMPLAINTS :
    Informant : Mother
    A 2 year old female child was brought to our Ophthalmology
    outpatient department by her mother with chief complaints of white
    opacity in both eyes since two months.
    HISTORY OF PRESENTING ILLNESS:
    H/o Leukocoria in both eyes X 2 months
    Onset : Insidious, Progression: Gradual
    No H/o repeated falls .
    No H/o convulsions, mental retardation.
    No H/o exposure to pets.
    No H/o photosensitivity .
    No H/o eye pain .
    No H/o flashes of light.
    PAST HISTORY AND BIRTH HISTORY:
    No H/o Previous surgeries
    Delivery done at hospital , Pre term birth at 7.5 months with
    birth weight of 1.3 kg
    H/o admission in NICU and Vaccination given at birth.
    FAMILY HISTORY:
    H/o second degree consanguinity
    H/o similar complaints in both of her elder siblings
    No H/o eye loss in other family members.

    FATHER MOTHER

    FEMALE CHILD FEMALE CHILD FEMALE CHILD


    UNILATERAL,OD UNILATERAL,OD BILATERAL
    10 year old 4 year old 2 year old
    IMMUNIZATION HISTORY:
    Well immunized till date.
    DEVELOPMENTAL HISTORY:
    Milestones are normal.
    PERSONAL HISTORY:
    Normal sleep pattern, apetite , bowel and bladder habits.
    EXAMINATION:
    GENERAL EXAMINATION:
    Patient was conscious, moderately built, moderately nourished, well oriented to
    place,time and person.
    Afebrile
    Pulse:102/min
    BP :100/60 mm of Hg
    RR: 18/min
    No pallor, icterus, cyanosis, clubbing, lymphadenopathy, pedal edema.
    SYSTEMIC EXAMINATION:
    • CVS- S1 and S2 are heard
    •RS – NVBS heard
    •CNS – NFND
    LOCAL EXAMINATION:
    Facial symmetry : Normal
    Head posture: Normal
    Forehead : Normal
    OPHTHALMIC EXAMINATION:
    RIGHT EYE LEFT EYE
    Visual acuity Normal No perception of light
    Conjunctiva Normal Normal
    Cornea Clear Clear
    Iris Colour and pattern normal Colour and pattern normal

    Pupil Central round pupil of 3mm Sluggish reacting pupil


    size
    Lens Normal Cataractous lens
    Fundus Examination Yellowish white mount of lesion Media hazy
    seen inferiorly, with macular
    sparing , vessels over the lesion
    are seen
    DIFFERENTIAL DIAGNOSIS:
    With the H/o of Leukocoria,

    Retinoblastoma
    Persistent fetal vasculature
    Congenital cataract
    Retinopathy of prematurity
    Toxocariasis and Toxoplasmosis
    Coats disease

     Astrocytic hamartoma

     Retinal detachment
    Retinochoroidal coloboma
     Endogenous endophthalmitis
    FUNDUS EXAMINATION:
    Fundus examination done with IDO.
    Yellowish white lesion seen inferiorly, with sparing of macula .
    Vessels over the lesion are seen.

    FUNDUS PHOTHOGRAPH OF RIGHT EYE B SCAN ULTRASONOGRAPHY OF LEFT EYE

    B SCAN ULTRASONOGRAPHY:
     It shows echogenic mass filling vitreous cavity in posterior segment with
    calcifications.
    MRI SCAN:
     Nodular soft tissue lesion in posterior segment of bilateral globes . No abnormal
    thickening of the left lens. Vitreous humour , extraocular muscles appears normal.
    Left optic nerve display normal course. Left lacrimal gland is normal . Retro
    orbital fat shows normal signal intensity. ( Dated: Feb 2023 )
    FINAL DIAGNOSIS : Bilateral Retinoblastoma
    right eye(stage 0, group B) and left eye( stage 1 , group D)
    TREATMENT:

    CHEMOTHERAPY (12 +6 cycles)

    PREMEDICATION:

    Inj. DEXAMETHASONE 8mg I.V


    nerve is usually done
    ENUCLEATED LEFT EYE
    Inj. RANITIDINE 150 mg 1 STAT
    CHEMOTHERAPY:
    Inj. CARBOPLATIN 200 mg I.V infusion Day 1
    Inj. ETOPOSIDE 60 mg I.V infusion Day 1
    Inj. VINCRISTINE 0.6 mg I.V Bolus Day 1

    ENUCLEATION:
    Enucleation with long piece of optic nerve is ENUCLEATED LEFT EYEBALL
    usually done
    PATHOLOGY:
    MORPHOLOGY:
    GROSS:
    The enucleated specimen of left eye ball with optic nerve was received , measuring 2.2x2.2x2’cm
    with optic nerve measuring 0.4 cm in length. C/S shows endophytic growth measuring 1.8x1.8x1.8cm
    involving optic nerve , located in posterior chamber . Optic nerve is 0.2 cm away from the tumour ,
    anterior chamber is free, 75% of vitreous chamber involved by tumour.
    MICROSCOPY:
    Section studied from enucleated specimen shows a circumscribed tumour infiltrating the optic
    nerve, composed of small round cells with scant cytoplasm , hyperchromatic nuclei in sheets and
    nests. Tumour cells are seen around the eosinophilic material. Numerous Homer wright and Flexner
    wintersteiner rosettes present. Areas of dystrophic calcification and extensive tumour necrosis are
    made out. No anaplasia. Tumour involves lamina cribrosa of optic nerve . Optic nerve surgical cut
    margin is free.

    GROSS PICTURE OF RETINOBLASTOMA HISTOPATHOLOGICAL PICTURE OF RETINOBLASTOMA IHC- SYNAPTOPHYSIN HIGH KI 67


    TAKE HOME POINTS

    RETINOBLASTOMA:
    Most common primary intraocular malignancy of children arises from neurosensory
    retina. Incidence: 1 in 20000 live birth, Autosomal dominant pattern of inheritance
    with , all bilateral and 15 % unilateral cases are hereditary.
    GENETIC COUNSELLING, YOUR ROAD MAP TO FUTURE!
    • Genetic counseling plays a pivotal role in retinoblastoma management by
    providing genetic risk assessment, facilitating genetic testing, offering psychosocial
    support, and ensuring families are well-informed about the condition and its
    implications.
    • This empowers families to make informed decisions and optimize care for affected
    individuals.
    REFERENCES:
    • Zahn J, Chan MP, Wang G, Patel RM, Andea AA, Bresler SC, Harms PW.
    Altered Rb, p16, and p53 expression is specific for porocarcinoma relative
    to poroma. J Cutan Pathol. 2019 Sep;46(9):659-664.
    • Mattosinho CCS, Moura ATMS, Oigman G, Ferman SE, Grigorovski N. Time
    to diagnosis of retinoblastoma in Latin America: A systematic
    review. Pediatr Hematol Oncol. 2019 Mar;36(2):55-72
    • Alkatan HM, Al Marek F, Elkhamary S. Demographics of Pediatric Orbital
    Lesions: A Tertiary Eye Center Experience in Saudi Arabia. J Epidemiol Glob
    Health. 2019 Mar;9(1):3-10.
    • 3.Kletke SN, Feng ZX, Hazrati LN, Gallie BL, Soliman SE. Clinical Predictors
    at Diagnosis of Low-Risk Histopathology in Unilateral Advanced
    Retinoblastoma. Ophthalmology. 2019 Sep;126(9):1306-1314.
    RES MAGNA’24

    THANK YOU

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